Canonical Allele Identifier: CA2392434368

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990642_45990643delinsAG , CM000683.2:g.45990642_45990643delinsAG	GRCh38
NC_000021.8:g.47410556_47410557delinsAG , CM000683.1:g.47410556_47410557delinsAG	GRCh37
NC_000021.7:g.46234984_46234985delinsAG	NCBI36
NG_008674.1:g.13894_13895delinsAG , LRG_475:g.13894_13895delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1003-131_1003-130delinsAG MANE Select	ENSP00000355180.3:n.1003-131_1003-130delinsAG
ENST00000361866.7:c.1003-131_1003-130delinsAG	ENSP00000355180.3:n.1003-131_1003-130delinsAG
ENST00000612273.1:c.1003-131_1003-130delinsAG	ENSP00000483630.1:n.1003-131_1003-130delinsAG
NM_001848.2:c.1003-131_1003-130delinsAG , LRG_475t1:c.1003-131_1003-130delinsAG	NP_001839.2:n.1003-131_1003-130delinsAG
NM_001848.3:c.1003-131_1003-130delinsAG MANE Select	NP_001839.2:n.1003-131_1003-130delinsAG