Canonical Allele Identifier: CA2654959191

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990462-A-AGGGCCGGGGCGGGCTGGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990464_45990465insGCCGGGGCGGGCTGGGGTGG , CM000683.2:g.45990464_45990465insGCCGGGGCGGGCTGGGGTGG	GRCh38
NC_000021.8:g.47410378_47410379insGCCGGGGCGGGCTGGGGTGG , CM000683.1:g.47410378_47410379insGCCGGGGCGGGCTGGGGTGG	GRCh37
NC_000021.7:g.46234806_46234807insGCCGGGGCGGGCTGGGGTGG	NCBI36
NG_008674.1:g.13716_13717insGCCGGGGCGGGCTGGGGTGG , LRG_475:g.13716_13717insGCCGGGGCGGGCTGGGGTGG

Transcript Alleles

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