Linked Data
dbSNP Id:
rs761504237
ExAC:
12:54677761 CTA / C
gnomAD v2:
12-54677761-CTA-C
gnomAD v3:
12-54283977-CTA-C
gnomAD v4:
12-54283977-CTA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.54283979_54283980del , CM000674.2:g.54283979_54283980del | GRCh38 |
| NC_000012.11:g.54677763_54677764del , CM000674.1:g.54677763_54677764del | GRCh37 |
| NC_000012.10:g.52964030_52964031del | NCBI36 |
| NG_033830.1:g.8276_8277del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340913.11:c.1063+12_1063+13del MANE Select | ENSP00000341826.7:n.1063+12_1063+13del | |
| ENST00000550482.2:c.907+12_907+13del | ENSP00000446486.2:n.907+12_907+13del | |
| ENST00000676572.1:c.289+12_289+13del | ||
| ENST00000676725.1:n.1237+12_1237+13del | ||
| ENST00000676794.1:c.82+12_82+13del | ENSP00000504819.1:n.82+12_82+13del | |
| ENST00000676886.1:c.85-279_85-278del | ||
| ENST00000677191.1:c.403+12_403+13del | ||
| ENST00000677210.1:c.1063+12_1063+13del | ENSP00000503610.1:n.1063+12_1063+13del | |
| ENST00000677220.1:c.132+2477_132+2478del | ENSP00000502987.1:n.132+2477_132+2478del | |
| ENST00000677249.1:c.904+12_904+13del | ENSP00000503649.1:n.904+12_904+13del | |
| ENST00000677375.1:c.907+12_907+13del | ENSP00000503651.1:n.907+12_907+13del | |
| ENST00000677385.1:c.*1261_*1262del | ENSP00000502985.1:n.*1261_*1262del | |
| ENST00000677778.1:c.75+1105_75+1106del | ||
| ENST00000677840.1:c.156+12_156+13del | ||
| ENST00000678077.1:c.772+12_772+13del | ENSP00000504814.1:n.772+12_772+13del | |
| ENST00000678212.1:c.251+12_251+13del | ||
| ENST00000678365.1:n.49-2683_49-2682del | ||
| ENST00000678412.1:c.157-279_157-278del | ||
| ENST00000678418.1:n.1259+12_1259+13del | ||
| ENST00000678448.1:c.255+12_255+13del | ENSP00000503619.1:n.255+12_255+13del | |
| ENST00000678456.1:c.76-279_76-278del | ||
| ENST00000678970.1:c.232+12_232+13del | ||
| ENST00000679026.1:c.156+12_156+13del | ||
| ENST00000679079.1:c.157-570_157-569del | ||
| ENST00000679228.1:n.1258+12_1258+13del | ||
| ENST00000679273.1:c.243+12_243+13del | ENSP00000504626.1:n.243+12_243+13del | |
| ENST00000679344.1:c.264+12_264+13del | ||
| ENST00000330752.12:c.868+12_868+13del | ENSP00000333504.8:n.868+12_868+13del | |
| ENST00000340913.10:c.1063+12_1063+13del | ENSP00000341826.6:n.1063+12_1063+13del | |
| ENST00000546500.5:c.907+12_907+13del | ENSP00000448617.1:n.907+12_907+13del | |
| ENST00000547276.5:c.748+12_748+13del | ENSP00000447260.1:n.748+12_748+13del | |
| ENST00000547566.5:c.907+12_907+13del | ENSP00000449913.1:n.907+12_907+13del | |
| ENST00000550482.1:c.520+12_520+13del | ENSP00000446486.1:n.520+12_520+13del | |
| ENST00000551679.1:n.245+12_245+13del | ||
| NM_002136.2:c.907+12_907+13del | NP_002127.1:n.907+12_907+13del | |
| NM_031157.2:c.1063+12_1063+13del | NP_112420.1:n.1063+12_1063+13del | |
| XM_005268826.1:c.1063+12_1063+13del | XP_005268883.1:n.1063+12_1063+13del | |
| XR_245923.1:n.1175+12_1175+13del | ||
| XR_245924.1:n.1019+12_1019+13del | ||
| NM_002136.3:c.907+12_907+13del | NP_002127.1:n.907+12_907+13del | |
| NM_031157.3:c.1063+12_1063+13del | NP_112420.1:n.1063+12_1063+13del | |
| NR_135167.1:n.1025+12_1025+13del | ||
| XM_005268826.2:c.1063+12_1063+13del | XP_005268883.1:n.1063+12_1063+13del | |
| XR_245923.2:n.1135+12_1135+13del | ||
| NM_002136.4:c.907+12_907+13del | NP_002127.1:n.907+12_907+13del | |
| NM_031157.4:c.1063+12_1063+13del MANE Select | NP_112420.1:n.1063+12_1063+13del | |
| NR_135167.2:n.989+12_989+13del |