Canonical Allele Identifier: CA2392429975
Gene: COL6A1 HGNC NCBI

Linked Data

dbSNP Id: rs2077724231
gnomAD v4: 21-45984226-CA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984227del , CM000683.2:g.45984227del GRCh38
NC_000021.8:g.47404141del , CM000683.1:g.47404141del GRCh37
NC_000021.7:g.46228569del NCBI36
NG_008674.1:g.7479del , LRG_475:g.7479del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.228-42del MANE Select ENSP00000355180.3:n.228-42del
ENST00000361866.7:c.228-42del ENSP00000355180.3:n.228-42del
ENST00000612273.1:c.228-42del ENSP00000483630.1:n.228-42del
NM_001848.2:c.228-42del , LRG_475t1:c.228-42del NP_001839.2:n.228-42del
NM_001848.3:c.228-42del MANE Select NP_001839.2:n.228-42del
Search 100 bp 5'
Search 100 bp 3'