Canonical Allele Identifier: CA2654970577

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990465-A-ACGGCGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAAGGACGGGGAGGGACGGGGAGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990465_45990466insCGGCGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAAGGACGGGGAGGGACGGGGAGGG , CM000683.2:g.45990465_45990466insCGGCGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAAGGACGGGGAGGGACGGGGAGGG	GRCh38
NC_000021.8:g.47410379_47410380insCGGCGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAAGGACGGGGAGGGACGGGGAGGG , CM000683.1:g.47410379_47410380insCGGCGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAAGGACGGGGAGGGACGGGGAGGG	GRCh37
NC_000021.7:g.46234807_46234808insCGGCGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAAGGACGGGGAGGGACGGGGAGGG	NCBI36
NG_008674.1:g.13717_13718insCGGCGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAAGGACGGGGAGGGACGGGGAGGG , LRG_475:g.13717_13718insCGGCGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAAGGACGGGGAGGGACGGGGAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+43_1002+44insCGGCGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAAGGACGGGGAGGGACGGGGAGGG MANE Select	ENSP00000355180.3:n.1002+43_1002+44insCGGCGAGGGATGGGGTGGACAGT...
ENST00000361866.7:c.1002+43_1002+44insCGGCGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAAGGACGGGGAGGGACGGGGAGGG	ENSP00000355180.3:n.1002+43_1002+44insCGGCGAGGGATGGGGTGGACAGT...
ENST00000612273.1:c.1002+43_1002+44insCGGCGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAAGGACGGGGAGGGACGGGGAGGG	ENSP00000483630.1:n.1002+43_1002+44insCGGCGAGGGATGGGGTGGACAGT...
NM_001848.2:c.1002+43_1002+44insCGGCGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAAGGACGGGGAGGGACGGGGAGGG , LRG_475t1:c.1002+43_1002+44insCGGCGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAAGGACGGGGAGGGACGGGGAGGG	NP_001839.2:n.1002+43_1002+44insCGGCGAGGGATGGGGTGGACAGTGTGAAG...
NM_001848.3:c.1002+43_1002+44insCGGCGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGGAAGGACGGGGAGGGACGGGGAGGG MANE Select	NP_001839.2:n.1002+43_1002+44insCGGCGAGGGATGGGGTGGACAGTGTGAAG...