Canonical Allele Identifier: CA2654972405

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990472-C-CAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990472_45990473insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGAT , CM000683.2:g.45990472_45990473insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGAT	GRCh38
NC_000021.8:g.47410386_47410387insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGAT , CM000683.1:g.47410386_47410387insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGAT	GRCh37
NC_000021.7:g.46234814_46234815insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGAT	NCBI36
NG_008674.1:g.13724_13725insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGAT , LRG_475:g.13724_13725insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGAT

Transcript Alleles

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