Canonical Allele Identifier: CA2015276284

Gene: M6PR

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8945249_8945252delinsAGAG , CM000674.2:g.8945249_8945252delinsAGAG	GRCh38
NC_000012.11:g.9097845_9097848delinsAGAG , CM000674.1:g.9097845_9097848delinsAGAG	GRCh37
NC_000012.10:g.8989112_8989115delinsAGAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000000412.8:c.343+166_343+169delinsCTCT MANE Select	ENSP00000000412.3:n.343+166_343+169delinsCTCT
ENST00000000412.7:c.343+166_343+169delinsCTCT	ENSP00000000412.3:n.343+166_343+169delinsCTCT
ENST00000536844.5:c.343+166_343+169delinsCTCT	ENSP00000440488.2:n.343+166_343+169delinsCTCT
ENST00000540837.1:n.633_636delinsCTCT
ENST00000541507.5:c.343+166_343+169delinsCTCT	ENSP00000442100.1:n.343+166_343+169delinsCTCT
ENST00000543258.1:c.179+166_179+169delinsCTCT
ENST00000543704.5:c.66+1051_66+1054delinsCTCT	ENSP00000437595.1:n.66+1051_66+1054delinsCTCT
ENST00000543834.1:n.62+166_62+169delinsCTCT
ENST00000544245.1:c.-12+166_-12+169delinsCTCT	ENSP00000439968.1:n.-12+166_-12+169delinsCTCT
NM_001207024.1:c.343+166_343+169delinsCTCT	NP_001193953.1:n.343+166_343+169delinsCTCT
NM_002355.3:c.343+166_343+169delinsCTCT	NP_002346.1:n.343+166_343+169delinsCTCT
XM_005253376.1:c.343+166_343+169delinsCTCT	XP_005253433.1:n.343+166_343+169delinsCTCT
XM_011520672.1:c.343+166_343+169delinsCTCT	XP_011518974.1:n.343+166_343+169delinsCTCT
XM_005253376.2:c.343+166_343+169delinsCTCT	XP_005253433.1:n.343+166_343+169delinsCTCT
NM_002355.4:c.343+166_343+169delinsCTCT MANE Select	NP_002346.1:n.343+166_343+169delinsCTCT
NM_001207024.2:c.343+166_343+169delinsCTCT	NP_001193953.1:n.343+166_343+169delinsCTCT