Canonical Allele Identifier: CA2654972399

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990472-C-CAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990472_45990473insAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGA , CM000683.2:g.45990472_45990473insAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGA	GRCh38
NC_000021.8:g.47410386_47410387insAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGA , CM000683.1:g.47410386_47410387insAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGA	GRCh37
NC_000021.7:g.46234814_46234815insAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGA	NCBI36
NG_008674.1:g.13724_13725insAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGA , LRG_475:g.13724_13725insAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+50_1002+51insAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGA MANE Select	ENSP00000355180.3:n.1002+50_1002+51insAGCGTGAAGGTGACCGGGGAGGG...
ENST00000361866.7:c.1002+50_1002+51insAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGA	ENSP00000355180.3:n.1002+50_1002+51insAGCGTGAAGGTGACCGGGGAGGG...
ENST00000612273.1:c.1002+50_1002+51insAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGA	ENSP00000483630.1:n.1002+50_1002+51insAGCGTGAAGGTGACCGGGGAGGG...
NM_001848.2:c.1002+50_1002+51insAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGA , LRG_475t1:c.1002+50_1002+51insAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGA	NP_001839.2:n.1002+50_1002+51insAGCGTGAAGGTGACCGGGGAGGGATGGGG...
NM_001848.3:c.1002+50_1002+51insAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGA MANE Select	NP_001839.2:n.1002+50_1002+51insAGCGTGAAGGTGACCGGGGAGGGATGGGG...