Canonical Allele Identifier: CA2654972757

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990680-GTGGAGGGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990690_45990698del , CM000683.2:g.45990690_45990698del	GRCh38
NC_000021.8:g.47410604_47410612del , CM000683.1:g.47410604_47410612del	GRCh37
NC_000021.7:g.46235032_46235040del	NCBI36
NG_008674.1:g.13942_13950del , LRG_475:g.13942_13950del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1003-83_1003-75del MANE Select	ENSP00000355180.3:n.1003-83_1003-75del
ENST00000361866.7:c.1003-83_1003-75del	ENSP00000355180.3:n.1003-83_1003-75del
ENST00000612273.1:c.1003-83_1003-75del	ENSP00000483630.1:n.1003-83_1003-75del
NM_001848.2:c.1003-83_1003-75del , LRG_475t1:c.1003-83_1003-75del	NP_001839.2:n.1003-83_1003-75del
NM_001848.3:c.1003-83_1003-75del MANE Select	NP_001839.2:n.1003-83_1003-75del