Canonical Allele Identifier: CA657675853
Gene: COL6A1 HGNC NCBI

Linked Data

dbSNP Id: rs2077771397
gnomAD v3: 21-45990642-AG-A
gnomAD v4: 21-45990642-AG-A
COSMIC: COSN18743532
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45990648del , CM000683.2:g.45990648del GRCh38
NC_000021.8:g.47410562del , CM000683.1:g.47410562del GRCh37
NC_000021.7:g.46234990del NCBI36
NG_008674.1:g.13900del , LRG_475:g.13900del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.1003-125del MANE Select ENSP00000355180.3:n.1003-125del
ENST00000361866.7:c.1003-125del ENSP00000355180.3:n.1003-125del
ENST00000612273.1:c.1003-125del ENSP00000483630.1:n.1003-125del
NM_001848.2:c.1003-125del , LRG_475t1:c.1003-125del NP_001839.2:n.1003-125del
NM_001848.3:c.1003-125del MANE Select NP_001839.2:n.1003-125del
Search 100 bp 5'
Search 100 bp 3'