WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
ClinVar Variation Id:
100669
ClinVar RCV Id:
RCV000087069
dbSNP Id:
rs587777141
gnomAD v4:
8-67190655-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.67190656dup , CM000670.2:g.67190656dup | GRCh38 |
| NC_000008.10:g.68102891dup , CM000670.1:g.68102891dup | GRCh37 |
| NC_000008.9:g.68265445dup | NCBI36 |
| NG_034100.1:g.131289dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262210.11:c.3293dup (CSPP1) | ENSP00000262210.6:p.Tyr1098Ter | |
| ENST00000521324.3:c.1295dup (CSPP1) | ||
| ENST00000674993.1:c.3317dup (CSPP1) | ENSP00000502454.1:p.Tyr1106Ter | |
| ENST00000675306.2:c.2951dup (CSPP1) | ENSP00000502421.1:p.Tyr984Ter | |
| ENST00000675869.1:c.3032dup (CSPP1) | ENSP00000502747.1:p.Tyr1011Ter | |
| ENST00000675955.1:c.3146dup (CSPP1) | ENSP00000501676.1:p.Tyr1049Ter | |
| ENST00000675990.1:n.4556dup (CSPP1) | ||
| ENST00000676113.1:c.3185dup (CSPP1) | ENSP00000501645.1:p.Tyr1062Ter | |
| ENST00000676317.1:c.3212dup (CSPP1) | ENSP00000502047.1:p.Tyr1071Ter | |
| ENST00000676471.1:c.2960dup (CSPP1) | ENSP00000503711.1:p.Tyr987Ter | |
| ENST00000676573.1:c.2528dup (CSPP1) | ENSP00000504532.1:p.Tyr843Ter | |
| ENST00000676605.1:c.3335dup (CSPP1) | ENSP00000503605.1:p.Tyr1112Ter | |
| ENST00000676804.1:c.1735dup (CSPP1) | ||
| ENST00000676847.1:c.3206dup (CSPP1) | ENSP00000503336.1:p.Tyr1069Ter | |
| ENST00000676858.1:c.*1188dup (CSPP1) | ENSP00000502925.1:n.*1188dup | |
| ENST00000676882.1:c.3113dup (CSPP1) | ENSP00000504342.1:p.Tyr1038Ter | |
| ENST00000676968.1:c.1274dup (CSPP1) | ||
| ENST00000676980.1:n.368dup (CSPP1) | ||
| ENST00000677009.1:c.3142-4726dup (CSPP1) | ENSP00000503297.1:n.3142-4726dup | |
| ENST00000677052.1:n.2725dup (CSPP1) | ||
| ENST00000677131.1:c.1099dup (CSPP1) | ||
| ENST00000677256.1:c.*2946dup (CSPP1) | ENSP00000504102.1:n.*2946dup | |
| ENST00000677430.1:c.*819dup (CSPP1) | ENSP00000504177.1:n.*819dup | |
| ENST00000677473.1:c.*1243dup (CSPP1) | ENSP00000503534.1:n.*1243dup | |
| ENST00000677538.1:n.609dup (CSPP1) | ||
| ENST00000677592.1:c.3194dup (CSPP1) | ENSP00000504516.1:p.Tyr1065Ter | |
| ENST00000677619.1:c.2573dup (CSPP1) | ENSP00000504522.1:p.Tyr858Ter | |
| ENST00000677697.1:n.1190dup (CSPP1) | ||
| ENST00000677845.1:c.*1598dup (CSPP1) | ENSP00000503524.1:n.*1598dup | |
| ENST00000677855.1:c.2535dup (CSPP1) | ENSP00000504757.1:n.2535dup | |
| ENST00000677964.1:c.1224dup (CSPP1) | ||
| ENST00000678017.1:c.2078dup (CSPP1) | ENSP00000504394.1:p.Tyr693Ter | |
| ENST00000678318.1:c.2762dup (CSPP1) | ENSP00000503690.1:p.Tyr921Ter | |
| ENST00000678542.1:c.3335dup (CSPP1) | ENSP00000503878.1:p.Tyr1112Ter | |
| ENST00000678616.1:c.3227dup (CSPP1) MANE Select | ENSP00000504733.1:p.Tyr1076Ter | |
| ENST00000678635.1:n.1722dup (CSPP1) | ||
| ENST00000678645.1:c.3104dup (CSPP1) | ENSP00000504031.1:p.Tyr1035Ter | |
| ENST00000678723.1:c.1099dup (CSPP1) | ||
| ENST00000678747.1:c.2654dup (CSPP1) | ENSP00000503390.1:p.Tyr885Ter | |
| ENST00000678834.1:n.732dup (CSPP1) | ||
| ENST00000678895.1:c.1099dup (CSPP1) | ||
| ENST00000679060.1:n.352dup (CSPP1) | ||
| ENST00000679112.1:c.*3126dup (CSPP1) | ENSP00000503739.1:n.*3126dup | |
| ENST00000679226.1:c.2840dup (CSPP1) | ENSP00000503601.1:p.Tyr947Ter | |
| ENST00000679274.1:n.2151dup (CSPP1) | ||
| ENST00000679295.1:n.2198dup (CSPP1) | ||
| ENST00000679322.1:n.1271dup (CSPP1) | ||
| ENST00000262210.9:c.3212dup (CSPP1) | ENSP00000262210.5:p.Tyr1071Ter | |
| ENST00000518789.5:c.560+9740dup (ARFGEF1) | ||
| ENST00000519668.1:c.2177dup (CSPP1) | ENSP00000430092.1:p.Tyr726Ter | |
| ENST00000520381.5:c.3820+9740dup (ARFGEF1) | ||
| ENST00000521168.5:n.1217dup (CSPP1) | ||
| ENST00000521324.1:n.508dup (CSPP1) | ||
| NM_001291339.1:c.2177dup (CSPP1) | NP_001278268.1:p.Tyr726Ter | |
| NM_024790.6:c.3212dup (CSPP1) | NP_079066.5:p.Tyr1071Ter | |
| XM_005251136.2:c.5385+9740dup (ARFGEF1) | XP_005251193.1:n.5385+9740dup | |
| XM_005251305.3:c.3455dup (CSPP1) | XP_005251362.2:p.Tyr1152Ter | |
| XM_006716474.2:c.3302dup (CSPP1) | XP_006716537.2:p.Tyr1101Ter | |
| XM_006716477.2:c.2924dup (CSPP1) | XP_006716540.2:p.Tyr975Ter | |
| XM_011517598.1:c.3497dup (CSPP1) | XP_011515900.1:p.Tyr1166Ter | |
| XM_011517599.1:c.3473dup (CSPP1) | XP_011515901.1:p.Tyr1158Ter | |
| XM_011517600.1:c.3431dup (CSPP1) | XP_011515902.1:p.Tyr1144Ter | |
| XM_011517601.1:c.3392dup (CSPP1) | XP_011515903.1:p.Tyr1131Ter | |
| XM_011517602.1:c.3350dup (CSPP1) | XP_011515904.1:p.Tyr1117Ter | |
| XM_011517603.1:c.3251dup (CSPP1) | XP_011515905.1:p.Tyr1084Ter | |
| XM_011517604.1:c.3251dup (CSPP1) | XP_011515906.1:p.Tyr1084Ter | |
| XM_011517605.1:c.3251dup (CSPP1) | XP_011515907.1:p.Tyr1084Ter | |
| XM_011517606.1:c.3227dup (CSPP1) | XP_011515908.1:p.Tyr1076Ter | |
| XM_011517607.1:c.3227dup (CSPP1) | XP_011515909.1:p.Tyr1076Ter | |
| XM_011517608.1:c.3146dup (CSPP1) | XP_011515910.1:p.Tyr1049Ter | |
| XM_011517609.1:c.2372dup (CSPP1) | XP_011515911.1:p.Tyr791Ter | |
| XM_011517610.1:c.1892dup (CSPP1) | XP_011515912.1:p.Tyr631Ter | |
| XM_011517611.1:c.1532dup (CSPP1) | XP_011515913.1:p.Tyr511Ter | |
| NM_001363131.1:c.3146dup (CSPP1) | NP_001350060.1:p.Tyr1049Ter | |
| NM_001363132.1:c.3032dup (CSPP1) | NP_001350061.1:p.Tyr1011Ter | |
| NM_001363133.1:c.2951dup (CSPP1) | NP_001350062.1:p.Tyr984Ter | |
| NM_001364869.1:c.3293dup (CSPP1) | NP_001351798.1:p.Tyr1098Ter | |
| NM_001364870.1:c.3113dup (CSPP1) | NP_001351799.1:p.Tyr1038Ter | |
| XM_005251136.4:c.5385+9740dup (ARFGEF1) | XP_005251193.1:n.5385+9740dup | |
| XM_005251305.4:c.3455dup (CSPP1) | XP_005251362.2:p.Tyr1152Ter | |
| XM_006716474.3:c.3302dup (CSPP1) | XP_006716537.2:p.Tyr1101Ter | |
| XM_006716477.3:c.2924dup (CSPP1) | XP_006716540.2:p.Tyr975Ter | |
| XM_011517598.2:c.3497dup (CSPP1) | XP_011515900.1:p.Tyr1166Ter | |
| XM_011517599.2:c.3473dup (CSPP1) | XP_011515901.1:p.Tyr1158Ter | |
| XM_011517600.2:c.3431dup (CSPP1) | XP_011515902.1:p.Tyr1144Ter | |
| XM_011517601.2:c.3392dup (CSPP1) | XP_011515903.1:p.Tyr1131Ter | |
| XM_011517602.2:c.3350dup (CSPP1) | XP_011515904.1:p.Tyr1117Ter | |
| XM_011517603.2:c.3251dup (CSPP1) | XP_011515905.1:p.Tyr1084Ter | |
| XM_011517607.2:c.3227dup (CSPP1) | XP_011515909.1:p.Tyr1076Ter | |
| XM_011517609.2:c.2372dup (CSPP1) | XP_011515911.1:p.Tyr791Ter | |
| XM_011517611.3:c.1532dup (CSPP1) | XP_011515913.1:p.Tyr511Ter | |
| XM_017013847.2:c.3356dup (CSPP1) | XP_016869336.1:p.Tyr1119Ter | |
| XM_017013848.2:c.3332dup (CSPP1) | XP_016869337.1:p.Tyr1111Ter | |
| XM_017013849.2:c.3293dup (CSPP1) | XP_016869338.1:p.Tyr1098Ter | |
| XM_017013850.2:c.3251dup (CSPP1) | XP_016869339.1:p.Tyr1084Ter | |
| XM_017013851.2:c.3104dup (CSPP1) | XP_016869340.1:p.Tyr1035Ter | |
| XM_017013852.2:c.3098dup (CSPP1) | XP_016869341.1:p.Tyr1033Ter | |
| XM_017013854.2:c.2900dup (CSPP1) | XP_016869343.1:p.Tyr967Ter | |
| XM_017013855.2:c.2666dup (CSPP1) | XP_016869344.1:p.Tyr889Ter | |
| XM_017013856.2:c.2573dup (CSPP1) | XP_016869345.1:p.Tyr858Ter | |
| XM_017013858.2:c.1739dup (CSPP1) | XP_016869347.1:p.Tyr580Ter | |
| XM_024447278.1:c.3227dup (CSPP1) | XP_024303046.1:p.Tyr1076Ter | |
| XM_024447279.1:c.3146dup (CSPP1) | XP_024303047.1:p.Tyr1049Ter | |
| XM_024447281.1:c.2951dup (CSPP1) | XP_024303049.1:p.Tyr984Ter | |
| XM_024447282.1:c.2654dup (CSPP1) | XP_024303050.1:p.Tyr885Ter | |
| XM_024447283.1:c.2330dup (CSPP1) | XP_024303051.1:p.Tyr777Ter | |
| XM_024447284.1:c.1892dup (CSPP1) | XP_024303052.1:p.Tyr631Ter | |
| NM_001363131.2:c.3146dup (CSPP1) | NP_001350060.1:p.Tyr1049Ter | |
| NM_001363132.2:c.3032dup (CSPP1) | NP_001350061.1:p.Tyr1011Ter | |
| NM_001363133.2:c.2951dup (CSPP1) | NP_001350062.1:p.Tyr984Ter | |
| NM_001291339.2:c.2177dup (CSPP1) | NP_001278268.1:p.Tyr726Ter | |
| NM_001382391.1:c.3227dup (CSPP1) MANE Select | NP_001369320.1:p.Tyr1076Ter |