Canonical Allele Identifier: CA1022876164
Gene: COL6A1 HGNC NCBI

Linked Data

dbSNP Id: rs2077723260
gnomAD v3: 21-45984009-AC-A
gnomAD v4: 21-45984009-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984013del , CM000683.2:g.45984013del GRCh38
NC_000021.8:g.47403927del , CM000683.1:g.47403927del GRCh37
NC_000021.7:g.46228355del NCBI36
NG_008674.1:g.7265del , LRG_475:g.7265del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.228-256del MANE Select ENSP00000355180.3:n.228-256del
ENST00000361866.7:c.228-256del ENSP00000355180.3:n.228-256del
ENST00000612273.1:c.228-256del ENSP00000483630.1:n.228-256del
NM_001848.2:c.228-256del , LRG_475t1:c.228-256del NP_001839.2:n.228-256del
NM_001848.3:c.228-256del MANE Select NP_001839.2:n.228-256del
Search 100 bp 5'
Search 100 bp 3'