Canonical Allele Identifier: CA2654972525

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990511-C-CAGGGGACGGACGGGGAGGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990511_45990512insAGGGGACGGACGGGGAGGGA , CM000683.2:g.45990511_45990512insAGGGGACGGACGGGGAGGGA	GRCh38
NC_000021.8:g.47410425_47410426insAGGGGACGGACGGGGAGGGA , CM000683.1:g.47410425_47410426insAGGGGACGGACGGGGAGGGA	GRCh37
NC_000021.7:g.46234853_46234854insAGGGGACGGACGGGGAGGGA	NCBI36
NG_008674.1:g.13763_13764insAGGGGACGGACGGGGAGGGA , LRG_475:g.13763_13764insAGGGGACGGACGGGGAGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+89_1002+90insAGGGGACGGACGGGGAGGGA MANE Select	ENSP00000355180.3:n.1002+89_1002+90insAGGGGACGGACGGGGAGGGA
ENST00000361866.7:c.1002+89_1002+90insAGGGGACGGACGGGGAGGGA	ENSP00000355180.3:n.1002+89_1002+90insAGGGGACGGACGGGGAGGGA
ENST00000612273.1:c.1002+89_1002+90insAGGGGACGGACGGGGAGGGA	ENSP00000483630.1:n.1002+89_1002+90insAGGGGACGGACGGGGAGGGA
NM_001848.2:c.1002+89_1002+90insAGGGGACGGACGGGGAGGGA , LRG_475t1:c.1002+89_1002+90insAGGGGACGGACGGGGAGGGA	NP_001839.2:n.1002+89_1002+90insAGGGGACGGACGGGGAGGGA
NM_001848.3:c.1002+89_1002+90insAGGGGACGGACGGGGAGGGA MANE Select	NP_001839.2:n.1002+89_1002+90insAGGGGACGGACGGGGAGGGA