Canonical Allele Identifier: CA2392434342

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990600_45990601delinsAG , CM000683.2:g.45990600_45990601delinsAG	GRCh38
NC_000021.8:g.47410514_47410515delinsAG , CM000683.1:g.47410514_47410515delinsAG	GRCh37
NC_000021.7:g.46234942_46234943delinsAG	NCBI36
NG_008674.1:g.13852_13853delinsAG , LRG_475:g.13852_13853delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1003-173_1003-172delinsAG MANE Select	ENSP00000355180.3:n.1003-173_1003-172delinsAG
ENST00000361866.7:c.1003-173_1003-172delinsAG	ENSP00000355180.3:n.1003-173_1003-172delinsAG
ENST00000612273.1:c.1003-173_1003-172delinsAG	ENSP00000483630.1:n.1003-173_1003-172delinsAG
NM_001848.2:c.1003-173_1003-172delinsAG , LRG_475t1:c.1003-173_1003-172delinsAG	NP_001839.2:n.1003-173_1003-172delinsAG
NM_001848.3:c.1003-173_1003-172delinsAG MANE Select	NP_001839.2:n.1003-173_1003-172delinsAG