Canonical Allele Identifier: CA2654970642

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990465-A-ACGGGGAGGGATGGGGTGAGGAGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGGGGACGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990465_45990466insCGGGGAGGGATGGGGTGAGGAGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGGGGACGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG , CM000683.2:g.45990465_45990466insCGGGGAGGGATGGGGTGAGGAGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGGGGACGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG	GRCh38
NC_000021.8:g.47410379_47410380insCGGGGAGGGATGGGGTGAGGAGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGGGGACGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG , CM000683.1:g.47410379_47410380insCGGGGAGGGATGGGGTGAGGAGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGGGGACGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG	GRCh37
NC_000021.7:g.46234807_46234808insCGGGGAGGGATGGGGTGAGGAGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGGGGACGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG	NCBI36
NG_008674.1:g.13717_13718insCGGGGAGGGATGGGGTGAGGAGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGGGGACGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG , LRG_475:g.13717_13718insCGGGGAGGGATGGGGTGAGGAGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGGGGACGGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG

Transcript Alleles

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