Linked Data
dbSNP Id:
rs1251160805
gnomAD v2:
7-21658625-T-TATTTTAG
gnomAD v3:
7-21619007-T-TATTTTAG
gnomAD v4:
7-21619007-T-TATTTTAG
MyVariant Identifiers:
chr7:g.21658625_21658626insATTTTAG (hg19)
chr7:g.21619007_21619008insATTTTAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21619008_21619014dup , CM000669.2:g.21619008_21619014dup | GRCh38 |
| NC_000007.13:g.21658626_21658632dup , CM000669.1:g.21658626_21658632dup | GRCh37 |
| NC_000007.12:g.21625151_21625157dup | NCBI36 |
| NG_012886.2:g.80794_80800dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.4255-92_4255-86dup MANE Select | ENSP00000475939.1:n.4255-92_4255-86dup | |
| ENST00000328843.10:c.4270-92_4270-86dup | ENSP00000330671.7:n.4270-92_4270-86dup | |
| ENST00000409508.7:c.4255-92_4255-86dup | ENSP00000475939.1:n.4255-92_4255-86dup | |
| ENST00000465593.1:n.281-92_281-86dup | ||
| ENST00000620169.4:c.4270-92_4270-86dup | ENSP00000481693.1:n.4270-92_4270-86dup | |
| NM_001277115.1:c.4255-92_4255-86dup | NP_001264044.1:n.4255-92_4255-86dup | |
| NM_001277115.2:c.4255-92_4255-86dup MANE Select | NP_001264044.1:n.4255-92_4255-86dup |