Canonical Allele Identifier: CA2654972594

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990531-C-CAGTGTGAAGGTGACCGGGGAGGGATGGGGTGGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990546_45990547insGGGGAGGGATGGGGTGGAAAGTGTGAAGGTGACC , CM000683.2:g.45990546_45990547insGGGGAGGGATGGGGTGGAAAGTGTGAAGGTGACC	GRCh38
NC_000021.8:g.47410460_47410461insGGGGAGGGATGGGGTGGAAAGTGTGAAGGTGACC , CM000683.1:g.47410460_47410461insGGGGAGGGATGGGGTGGAAAGTGTGAAGGTGACC	GRCh37
NC_000021.7:g.46234888_46234889insGGGGAGGGATGGGGTGGAAAGTGTGAAGGTGACC	NCBI36
NG_008674.1:g.13798_13799insGGGGAGGGATGGGGTGGAAAGTGTGAAGGTGACC , LRG_475:g.13798_13799insGGGGAGGGATGGGGTGGAAAGTGTGAAGGTGACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+124_1002+125insGGGGAGGGATGGGGTGGAAAGTGTGAAGGTGACC MANE Select	ENSP00000355180.3:n.1002+124_1002+125insGGGGAGGGATGGGGTGGAAAG...
ENST00000361866.7:c.1002+124_1002+125insGGGGAGGGATGGGGTGGAAAGTGTGAAGGTGACC	ENSP00000355180.3:n.1002+124_1002+125insGGGGAGGGATGGGGTGGAAAG...
ENST00000612273.1:c.1002+124_1002+125insGGGGAGGGATGGGGTGGAAAGTGTGAAGGTGACC	ENSP00000483630.1:n.1002+124_1002+125insGGGGAGGGATGGGGTGGAAAG...
NM_001848.2:c.1002+124_1002+125insGGGGAGGGATGGGGTGGAAAGTGTGAAGGTGACC , LRG_475t1:c.1002+124_1002+125insGGGGAGGGATGGGGTGGAAAGTGTGAAGGTGACC	NP_001839.2:n.1002+124_1002+125insGGGGAGGGATGGGGTGGAAAGTGTGAA...
NM_001848.3:c.1002+124_1002+125insGGGGAGGGATGGGGTGGAAAGTGTGAAGGTGACC MANE Select	NP_001839.2:n.1002+124_1002+125insGGGGAGGGATGGGGTGGAAAGTGTGAA...