Canonical Allele Identifier: CA2654970391

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990465-A-AATGGGGCGAGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990481_45990482insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGG , CM000683.2:g.45990481_45990482insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGG	GRCh38
NC_000021.8:g.47410395_47410396insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGG , CM000683.1:g.47410395_47410396insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGG	GRCh37
NC_000021.7:g.46234823_46234824insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGG	NCBI36
NG_008674.1:g.13733_13734insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGG , LRG_475:g.13733_13734insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+59_1002+60insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGG MANE Select	ENSP00000355180.3:n.1002+59_1002+60insTGGACAGTGTGAAGGTGACCAGG...
ENST00000361866.7:c.1002+59_1002+60insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGG	ENSP00000355180.3:n.1002+59_1002+60insTGGACAGTGTGAAGGTGACCAGG...
ENST00000612273.1:c.1002+59_1002+60insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGG	ENSP00000483630.1:n.1002+59_1002+60insTGGACAGTGTGAAGGTGACCAGG...
NM_001848.2:c.1002+59_1002+60insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGG , LRG_475t1:c.1002+59_1002+60insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGG	NP_001839.2:n.1002+59_1002+60insTGGACAGTGTGAAGGTGACCAGGGGAAGG...
NM_001848.3:c.1002+59_1002+60insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGG MANE Select	NP_001839.2:n.1002+59_1002+60insTGGACAGTGTGAAGGTGACCAGGGGAAGG...