Linked Data
dbSNP Id:
rs376697353
gnomAD v2:
1-11033010-TA-T
gnomAD v3:
1-10972953-TA-T
gnomAD v4:
1-10972953-TA-T
MyVariant Identifiers:
chr1:g.11033012del (hg19)
chr1:g.11033011del (hg19)
chr1:g.10972955del (hg38)
chr1:g.10972954del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10972964del , CM000663.2:g.10972964del | GRCh38 |
| NC_000001.10:g.11033021del , CM000663.1:g.11033021del | GRCh37 |
| NC_000001.9:g.10955608del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377004.9:c.128-2865del MANE Select | ENSP00000366203.4:n.128-2865del | |
| ENST00000377004.8:c.128-2865del | ENSP00000366203.4:n.128-2865del | |
| ENST00000520253.1:c.61-2865del | ||
| NM_001170754.1:c.128-2865del | NP_001164225.1:n.128-2865del | |
| NM_001170754.2:c.128-2865del MANE Select | NP_001164225.1:n.128-2865del |