Canonical Allele Identifier: CA2654972648

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990557-C-CGGGGAGGGACGGGGAGGGATGGGGTGAGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990585_45990586insATGGGGAGGGACGGGGAGGGATGGGGTGAG , CM000683.2:g.45990585_45990586insATGGGGAGGGACGGGGAGGGATGGGGTGAG	GRCh38
NC_000021.8:g.47410499_47410500insATGGGGAGGGACGGGGAGGGATGGGGTGAG , CM000683.1:g.47410499_47410500insATGGGGAGGGACGGGGAGGGATGGGGTGAG	GRCh37
NC_000021.7:g.46234927_46234928insATGGGGAGGGACGGGGAGGGATGGGGTGAG	NCBI36
NG_008674.1:g.13837_13838insATGGGGAGGGACGGGGAGGGATGGGGTGAG , LRG_475:g.13837_13838insATGGGGAGGGACGGGGAGGGATGGGGTGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+163_1002+164insATGGGGAGGGACGGGGAGGGATGGGGTGAG MANE Select	ENSP00000355180.3:n.1002+163_1002+164insATGGGGAGGGACGGGGAGGGA...
ENST00000361866.7:c.1002+163_1002+164insATGGGGAGGGACGGGGAGGGATGGGGTGAG	ENSP00000355180.3:n.1002+163_1002+164insATGGGGAGGGACGGGGAGGGA...
ENST00000612273.1:c.1002+163_1002+164insATGGGGAGGGACGGGGAGGGATGGGGTGAG	ENSP00000483630.1:n.1002+163_1002+164insATGGGGAGGGACGGGGAGGGA...
NM_001848.2:c.1002+163_1002+164insATGGGGAGGGACGGGGAGGGATGGGGTGAG , LRG_475t1:c.1002+163_1002+164insATGGGGAGGGACGGGGAGGGATGGGGTGAG	NP_001839.2:n.1002+163_1002+164insATGGGGAGGGACGGGGAGGGATGGGGT...
NM_001848.3:c.1002+163_1002+164insATGGGGAGGGACGGGGAGGGATGGGGTGAG MANE Select	NP_001839.2:n.1002+163_1002+164insATGGGGAGGGACGGGGAGGGATGGGGT...