Canonical Allele Identifier: CA2392432255

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987792_45987797delinsGGGTCC , CM000683.2:g.45987792_45987797delinsGGGTCC	GRCh38
NC_000021.8:g.47407706_47407711delinsGGGTCC , CM000683.1:g.47407706_47407711delinsGGGTCC	GRCh37
NC_000021.7:g.46232134_46232139delinsGGGTCC	NCBI36
NG_008674.1:g.11044_11049delinsGGGTCC , LRG_475:g.11044_11049delinsGGGTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.804+138_804+143delinsGGGTCC MANE Select	ENSP00000355180.3:n.804+138_804+143delinsGGGTCC
ENST00000361866.7:c.804+138_804+143delinsGGGTCC	ENSP00000355180.3:n.804+138_804+143delinsGGGTCC
ENST00000612273.1:c.804+138_804+143delinsGGGTCC	ENSP00000483630.1:n.804+138_804+143delinsGGGTCC
NM_001848.2:c.804+138_804+143delinsGGGTCC , LRG_475t1:c.804+138_804+143delinsGGGTCC	NP_001839.2:n.804+138_804+143delinsGGGTCC
NM_001848.3:c.804+138_804+143delinsGGGTCC MANE Select	NP_001839.2:n.804+138_804+143delinsGGGTCC