Canonical Allele Identifier: CA2654971262

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990465-A-ACGGGGAGGGATGGGGGGGAGAGGGTGAAGGGGAGCAGGGGAAGGACGGGGAGGGACGGGGAGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990465_45990466insCGGGGAGGGATGGGGGGGAGAGGGTGAAGGGGAGCAGGGGAAGGACGGGGAGGGACGGGGAGGG , CM000683.2:g.45990465_45990466insCGGGGAGGGATGGGGGGGAGAGGGTGAAGGGGAGCAGGGGAAGGACGGGGAGGGACGGGGAGGG	GRCh38
NC_000021.8:g.47410379_47410380insCGGGGAGGGATGGGGGGGAGAGGGTGAAGGGGAGCAGGGGAAGGACGGGGAGGGACGGGGAGGG , CM000683.1:g.47410379_47410380insCGGGGAGGGATGGGGGGGAGAGGGTGAAGGGGAGCAGGGGAAGGACGGGGAGGGACGGGGAGGG	GRCh37
NC_000021.7:g.46234807_46234808insCGGGGAGGGATGGGGGGGAGAGGGTGAAGGGGAGCAGGGGAAGGACGGGGAGGGACGGGGAGGG	NCBI36
NG_008674.1:g.13717_13718insCGGGGAGGGATGGGGGGGAGAGGGTGAAGGGGAGCAGGGGAAGGACGGGGAGGGACGGGGAGGG , LRG_475:g.13717_13718insCGGGGAGGGATGGGGGGGAGAGGGTGAAGGGGAGCAGGGGAAGGACGGGGAGGGACGGGGAGGG

Transcript Alleles

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