Canonical Allele Identifier: CA2654972499

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990503-A-AGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990503_45990504insGGC , CM000683.2:g.45990503_45990504insGGC	GRCh38
NC_000021.8:g.47410417_47410418insGGC , CM000683.1:g.47410417_47410418insGGC	GRCh37
NC_000021.7:g.46234845_46234846insGGC	NCBI36
NG_008674.1:g.13755_13756insGGC , LRG_475:g.13755_13756insGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+81_1002+82insGGC MANE Select	ENSP00000355180.3:n.1002+81_1002+82insGGC
ENST00000361866.7:c.1002+81_1002+82insGGC	ENSP00000355180.3:n.1002+81_1002+82insGGC
ENST00000612273.1:c.1002+81_1002+82insGGC	ENSP00000483630.1:n.1002+81_1002+82insGGC
NM_001848.2:c.1002+81_1002+82insGGC , LRG_475t1:c.1002+81_1002+82insGGC	NP_001839.2:n.1002+81_1002+82insGGC
NM_001848.3:c.1002+81_1002+82insGGC MANE Select	NP_001839.2:n.1002+81_1002+82insGGC