Linked Data
dbSNP Id:
rs1566129952
gnomAD v2:
12-109994883-CTT-C
gnomAD v3:
12-109557078-CTT-C
gnomAD v4:
12-109557078-CTT-C
MyVariant Identifiers:
chr12:g.109994884_109994885del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109557079_109557080del , CM000674.2:g.109557079_109557080del | GRCh38 |
| NC_000012.11:g.109994884_109994885del , CM000674.1:g.109994884_109994885del | GRCh37 |
| NC_000012.10:g.108479267_108479268del | NCBI36 |
| NG_007096.1:g.21418_21419del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.701_702del MANE Select | ENSP00000445920.1:p.Gln234ArgfsTer8 | |
| ENST00000537496.5:c.*266_*267del | ENSP00000444793.1:n.*266_*267del | |
| ENST00000540016.5:c.545_546del | ENSP00000474582.1:p.Gln182ArgfsTer8 | |
| ENST00000541763.6:c.926_927del | ENSP00000474981.1:n.926_927del | |
| ENST00000544051.5:c.*582_*583del | ENSP00000438079.1:n.*582_*583del | |
| ENST00000545712.6:c.701_702del | ENSP00000445920.1:p.Gln234ArgfsTer8 | |
| NM_052845.3:c.701_702del | NP_443077.1:p.Gln234ArgfsTer8 | |
| NR_038118.1:n.861_862del | ||
| XM_011538266.1:c.*48_*49del | XP_011536568.1:n.*48_*49del | |
| XM_011538267.1:c.*48_*49del | XP_011536569.1:n.*48_*49del | |
| XM_011538268.1:c.428_429del | XP_011536570.1:p.Gln143ArgfsTer8 | |
| XM_011538269.1:c.425_426del | XP_011536571.1:p.Gln142ArgfsTer8 | |
| XM_011538267.3:c.*48_*49del | XP_011536569.1:n.*48_*49del | |
| XM_011538268.2:c.428_429del | XP_011536570.1:p.Gln143ArgfsTer8 | |
| XM_011538269.2:c.425_426del | XP_011536571.1:p.Gln142ArgfsTer8 | |
| NM_052845.4:c.701_702del MANE Select | NP_443077.1:p.Gln234ArgfsTer8 | |
| NR_038118.2:n.812_813del |