Canonical Allele Identifier: CA2654972564

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990522-T-TGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990546_45990547insGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACC , CM000683.2:g.45990546_45990547insGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACC	GRCh38
NC_000021.8:g.47410460_47410461insGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACC , CM000683.1:g.47410460_47410461insGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACC	GRCh37
NC_000021.7:g.46234888_46234889insGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACC	NCBI36
NG_008674.1:g.13798_13799insGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACC , LRG_475:g.13798_13799insGGGGAGGGAGGGGGTGGACAGTGTGAAGGTGACC

Transcript Alleles

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