Canonical Allele Identifier: CA2654972618

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990541-G-GCTGTCTCTTA

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990541_45990542insCTGTCTCTTA , CM000683.2:g.45990541_45990542insCTGTCTCTTA	GRCh38
NC_000021.8:g.47410455_47410456insCTGTCTCTTA , CM000683.1:g.47410455_47410456insCTGTCTCTTA	GRCh37
NC_000021.7:g.46234883_46234884insCTGTCTCTTA	NCBI36
NG_008674.1:g.13793_13794insCTGTCTCTTA , LRG_475:g.13793_13794insCTGTCTCTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+119_1002+120insCTGTCTCTTA MANE Select	ENSP00000355180.3:n.1002+119_1002+120insCTGTCTCTTA
ENST00000361866.7:c.1002+119_1002+120insCTGTCTCTTA	ENSP00000355180.3:n.1002+119_1002+120insCTGTCTCTTA
ENST00000612273.1:c.1002+119_1002+120insCTGTCTCTTA	ENSP00000483630.1:n.1002+119_1002+120insCTGTCTCTTA
NM_001848.2:c.1002+119_1002+120insCTGTCTCTTA , LRG_475t1:c.1002+119_1002+120insCTGTCTCTTA	NP_001839.2:n.1002+119_1002+120insCTGTCTCTTA
NM_001848.3:c.1002+119_1002+120insCTGTCTCTTA MANE Select	NP_001839.2:n.1002+119_1002+120insCTGTCTCTTA