Linked Data
ClinVar Variation Id:
84
dbSNP Id:
rs397515338
ExAC:
10:100249807 CTT / C
gnomAD v2:
10-100249807-CTT-C
gnomAD v3:
10-98490050-CTT-C
gnomAD v4:
10-98490050-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.98490051_98490052del , CM000672.2:g.98490051_98490052del | GRCh38 |
| NC_000010.10:g.100249808_100249809del , CM000672.1:g.100249808_100249809del | GRCh37 |
| NC_000010.9:g.100239798_100239799del | NCBI36 |
| NG_023416.1:g.750824_750825del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370552.8:c.1465_1466del MANE Select | ENSP00000359583.3:p.Asn489ProfsTer? | |
| ENST00000370546.5:c.1465_1466del | ENSP00000359577.1:p.Asn489ProfsTer? | |
| ENST00000370549.5:c.1291_1292del | ENSP00000359580.1:p.Asn431ProfsTer? | |
| ENST00000370552.7:c.1465_1466del | ENSP00000359583.3:p.Asn489ProfsTer? | |
| ENST00000404542.5:c.856_857del | ENSP00000384384.2:p.Asn286ProfsTer? | |
| ENST00000628193.2:c.1129_1130del | ENSP00000485916.1:p.Asn377ProfsTer? | |
| NM_001166244.1:c.1291_1292del | NP_001159716.1:p.Asn431ProfsTer? | |
| NM_001166245.1:c.1129_1130del | NP_001159717.1:p.Asn377ProfsTer? | |
| NM_001166246.1:c.1465_1466del | NP_001159718.1:p.Asn489ProfsTer? | |
| NM_021828.4:c.1465_1466del | NP_068600.4:p.Asn489ProfsTer? | |
| XM_006717937.2:c.949_950del | XP_006718000.1:p.Asn317ProfsTer? | |
| XM_011540029.1:c.1465_1466del | XP_011538331.1:p.Lys489ValfsTer? | |
| XM_011540030.1:c.1303_1304del | XP_011538332.1:p.Asn435ProfsTer? | |
| XM_011540031.1:c.949_950del | XP_011538333.1:p.Asn317ProfsTer? | |
| XM_011540033.1:c.661_662del | XP_011538335.1:p.Asn221ProfsTer? | |
| XR_945794.1:n.1538_1539del | ||
| XM_011540031.2:c.949_950del | XP_011538333.1:p.Asn317ProfsTer? | |
| XM_017016495.1:c.1465_1466del | XP_016871984.1:p.Asn489ProfsTer? | |
| XM_017016497.1:c.949_950del | XP_016871986.1:p.Asn317ProfsTer? | |
| XM_017016498.1:c.661_662del | XP_016871987.1:p.Asn221ProfsTer? | |
| XM_024448119.1:c.949_950del | XP_024303887.1:p.Asn317ProfsTer? | |
| XM_024448120.1:c.661_662del | XP_024303888.1:p.Asn221ProfsTer? | |
| XR_001747170.1:n.1542_1543del | ||
| NM_021828.5:c.1465_1466del MANE Select | NP_068600.4:p.Asn489ProfsTer? |