Canonical Allele Identifier: CA2654972728

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990655-CTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990656_45990657del , CM000683.2:g.45990656_45990657del	GRCh38
NC_000021.8:g.47410570_47410571del , CM000683.1:g.47410570_47410571del	GRCh37
NC_000021.7:g.46234998_46234999del	NCBI36
NG_008674.1:g.13908_13909del , LRG_475:g.13908_13909del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1003-117_1003-116del MANE Select	ENSP00000355180.3:n.1003-117_1003-116del
ENST00000361866.7:c.1003-117_1003-116del	ENSP00000355180.3:n.1003-117_1003-116del
ENST00000612273.1:c.1003-117_1003-116del	ENSP00000483630.1:n.1003-117_1003-116del
NM_001848.2:c.1003-117_1003-116del , LRG_475t1:c.1003-117_1003-116del	NP_001839.2:n.1003-117_1003-116del
NM_001848.3:c.1003-117_1003-116del MANE Select	NP_001839.2:n.1003-117_1003-116del