Canonical Allele Identifier: CA2392432217

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987765_45987790delinsCGGGGGTCCAGATGGAGGGGACGGCG , CM000683.2:g.45987765_45987790delinsCGGGGGTCCAGATGGAGGGGACGGCG	GRCh38
NC_000021.8:g.47407679_47407704delinsCGGGGGTCCAGATGGAGGGGACGGCG , CM000683.1:g.47407679_47407704delinsCGGGGGTCCAGATGGAGGGGACGGCG	GRCh37
NC_000021.7:g.46232107_46232132delinsCGGGGGTCCAGATGGAGGGGACGGCG	NCBI36
NG_008674.1:g.11017_11042delinsCGGGGGTCCAGATGGAGGGGACGGCG , LRG_475:g.11017_11042delinsCGGGGGTCCAGATGGAGGGGACGGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.804+111_804+136delinsCGGGGGTCCAGATGGAGGGGACGGCG MANE Select	ENSP00000355180.3:n.804+111_804+136delinsCGGGGGTCCAGATGGAGGGG...
ENST00000361866.7:c.804+111_804+136delinsCGGGGGTCCAGATGGAGGGGACGGCG	ENSP00000355180.3:n.804+111_804+136delinsCGGGGGTCCAGATGGAGGGG...
ENST00000612273.1:c.804+111_804+136delinsCGGGGGTCCAGATGGAGGGGACGGCG	ENSP00000483630.1:n.804+111_804+136delinsCGGGGGTCCAGATGGAGGGG...
NM_001848.2:c.804+111_804+136delinsCGGGGGTCCAGATGGAGGGGACGGCG , LRG_475t1:c.804+111_804+136delinsCGGGGGTCCAGATGGAGGGGACGGCG	NP_001839.2:n.804+111_804+136delinsCGGGGGTCCAGATGGAGGGGACGGCG...
NM_001848.3:c.804+111_804+136delinsCGGGGGTCCAGATGGAGGGGACGGCG MANE Select	NP_001839.2:n.804+111_804+136delinsCGGGGGTCCAGATGGAGGGGACGGCG...