Canonical Allele Identifier: CA2654966340

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990465-A-ACGGGGAGGGATGTTGTGGACAGTTTGAAGGTGACCAGGGGAAGGAGTGGGAGTGAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990465_45990466insCGGGGAGGGATGTTGTGGACAGTTTGAAGGTGACCAGGGGAAGGAGTGGGAGTGAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG , CM000683.2:g.45990465_45990466insCGGGGAGGGATGTTGTGGACAGTTTGAAGGTGACCAGGGGAAGGAGTGGGAGTGAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG	GRCh38
NC_000021.8:g.47410379_47410380insCGGGGAGGGATGTTGTGGACAGTTTGAAGGTGACCAGGGGAAGGAGTGGGAGTGAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG , CM000683.1:g.47410379_47410380insCGGGGAGGGATGTTGTGGACAGTTTGAAGGTGACCAGGGGAAGGAGTGGGAGTGAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG	GRCh37
NC_000021.7:g.46234807_46234808insCGGGGAGGGATGTTGTGGACAGTTTGAAGGTGACCAGGGGAAGGAGTGGGAGTGAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG	NCBI36
NG_008674.1:g.13717_13718insCGGGGAGGGATGTTGTGGACAGTTTGAAGGTGACCAGGGGAAGGAGTGGGAGTGAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG , LRG_475:g.13717_13718insCGGGGAGGGATGTTGTGGACAGTTTGAAGGTGACCAGGGGAAGGAGTGGGAGTGAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG

Transcript Alleles

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