Canonical Allele Identifier: CA2654972749

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990672-GGGAGGGTGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990679_45990687del , CM000683.2:g.45990679_45990687del	GRCh38
NC_000021.8:g.47410593_47410601del , CM000683.1:g.47410593_47410601del	GRCh37
NC_000021.7:g.46235021_46235029del	NCBI36
NG_008674.1:g.13931_13939del , LRG_475:g.13931_13939del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1003-94_1003-86del MANE Select	ENSP00000355180.3:n.1003-94_1003-86del
ENST00000361866.7:c.1003-94_1003-86del	ENSP00000355180.3:n.1003-94_1003-86del
ENST00000612273.1:c.1003-94_1003-86del	ENSP00000483630.1:n.1003-94_1003-86del
NM_001848.2:c.1003-94_1003-86del , LRG_475t1:c.1003-94_1003-86del	NP_001839.2:n.1003-94_1003-86del
NM_001848.3:c.1003-94_1003-86del MANE Select	NP_001839.2:n.1003-94_1003-86del