Canonical Allele Identifier: CA2654972605

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990534-T-TGTGAAGGTGTCCCGGGGAGGGATGGGGTGGACAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990543_45990544insTCCCGGGGAGGGATGGGGTGGACAGGGTGAAGGTG , CM000683.2:g.45990543_45990544insTCCCGGGGAGGGATGGGGTGGACAGGGTGAAGGTG	GRCh38
NC_000021.8:g.47410457_47410458insTCCCGGGGAGGGATGGGGTGGACAGGGTGAAGGTG , CM000683.1:g.47410457_47410458insTCCCGGGGAGGGATGGGGTGGACAGGGTGAAGGTG	GRCh37
NC_000021.7:g.46234885_46234886insTCCCGGGGAGGGATGGGGTGGACAGGGTGAAGGTG	NCBI36
NG_008674.1:g.13795_13796insTCCCGGGGAGGGATGGGGTGGACAGGGTGAAGGTG , LRG_475:g.13795_13796insTCCCGGGGAGGGATGGGGTGGACAGGGTGAAGGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+121_1002+122insTCCCGGGGAGGGATGGGGTGGACAGGGTGAAGGTG MANE Select	ENSP00000355180.3:n.1002+121_1002+122insTCCCGGGGAGGGATGGGGTGG...
ENST00000361866.7:c.1002+121_1002+122insTCCCGGGGAGGGATGGGGTGGACAGGGTGAAGGTG	ENSP00000355180.3:n.1002+121_1002+122insTCCCGGGGAGGGATGGGGTGG...
ENST00000612273.1:c.1002+121_1002+122insTCCCGGGGAGGGATGGGGTGGACAGGGTGAAGGTG	ENSP00000483630.1:n.1002+121_1002+122insTCCCGGGGAGGGATGGGGTGG...
NM_001848.2:c.1002+121_1002+122insTCCCGGGGAGGGATGGGGTGGACAGGGTGAAGGTG , LRG_475t1:c.1002+121_1002+122insTCCCGGGGAGGGATGGGGTGGACAGGGTGAAGGTG	NP_001839.2:n.1002+121_1002+122insTCCCGGGGAGGGATGGGGTGGACAGGG...
NM_001848.3:c.1002+121_1002+122insTCCCGGGGAGGGATGGGGTGGACAGGGTGAAGGTG MANE Select	NP_001839.2:n.1002+121_1002+122insTCCCGGGGAGGGATGGGGTGGACAGGG...