Canonical Allele Identifier: CA2654970695

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990465-A-ACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGGGGACGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990465_45990466insCGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGGGGACGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG , CM000683.2:g.45990465_45990466insCGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGGGGACGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG	GRCh38
NC_000021.8:g.47410379_47410380insCGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGGGGACGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG , CM000683.1:g.47410379_47410380insCGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGGGGACGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG	GRCh37
NC_000021.7:g.46234807_46234808insCGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGGGGACGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG	NCBI36
NG_008674.1:g.13717_13718insCGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGGGGACGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG , LRG_475:g.13717_13718insCGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGGGGACGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG

Transcript Alleles

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