Canonical Allele Identifier: CA2654972555

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990521-A-ATGGGGTGGACAGTGTGAAGGTGACCGGGGAGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990546_45990547insGGGGAGGGTTGGGGTGGACAGTGTGAAGGTGACC , CM000683.2:g.45990546_45990547insGGGGAGGGTTGGGGTGGACAGTGTGAAGGTGACC	GRCh38
NC_000021.8:g.47410460_47410461insGGGGAGGGTTGGGGTGGACAGTGTGAAGGTGACC , CM000683.1:g.47410460_47410461insGGGGAGGGTTGGGGTGGACAGTGTGAAGGTGACC	GRCh37
NC_000021.7:g.46234888_46234889insGGGGAGGGTTGGGGTGGACAGTGTGAAGGTGACC	NCBI36
NG_008674.1:g.13798_13799insGGGGAGGGTTGGGGTGGACAGTGTGAAGGTGACC , LRG_475:g.13798_13799insGGGGAGGGTTGGGGTGGACAGTGTGAAGGTGACC

Transcript Alleles

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