Canonical Allele Identifier: CA2654959217

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990463-G-GGGACGGGGAGGGAGGGGGTGGACAGTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990464_45990465insGACGGGGAGGGAGGGGGTGGACAGTGTG , CM000683.2:g.45990464_45990465insGACGGGGAGGGAGGGGGTGGACAGTGTG	GRCh38
NC_000021.8:g.47410378_47410379insGACGGGGAGGGAGGGGGTGGACAGTGTG , CM000683.1:g.47410378_47410379insGACGGGGAGGGAGGGGGTGGACAGTGTG	GRCh37
NC_000021.7:g.46234806_46234807insGACGGGGAGGGAGGGGGTGGACAGTGTG	NCBI36
NG_008674.1:g.13716_13717insGACGGGGAGGGAGGGGGTGGACAGTGTG , LRG_475:g.13716_13717insGACGGGGAGGGAGGGGGTGGACAGTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+42_1002+43insGACGGGGAGGGAGGGGGTGGACAGTGTG MANE Select	ENSP00000355180.3:n.1002+42_1002+43insGACGGGGAGGGAGGGGGTGGACA...
ENST00000361866.7:c.1002+42_1002+43insGACGGGGAGGGAGGGGGTGGACAGTGTG	ENSP00000355180.3:n.1002+42_1002+43insGACGGGGAGGGAGGGGGTGGACA...
ENST00000612273.1:c.1002+42_1002+43insGACGGGGAGGGAGGGGGTGGACAGTGTG	ENSP00000483630.1:n.1002+42_1002+43insGACGGGGAGGGAGGGGGTGGACA...
NM_001848.2:c.1002+42_1002+43insGACGGGGAGGGAGGGGGTGGACAGTGTG , LRG_475t1:c.1002+42_1002+43insGACGGGGAGGGAGGGGGTGGACAGTGTG	NP_001839.2:n.1002+42_1002+43insGACGGGGAGGGAGGGGGTGGACAGTGTG
NM_001848.3:c.1002+42_1002+43insGACGGGGAGGGAGGGGGTGGACAGTGTG MANE Select	NP_001839.2:n.1002+42_1002+43insGACGGGGAGGGAGGGGGTGGACAGTGTG