Canonical Allele Identifier: CA2794492446

Gene: M6PR

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8945123_8945124insAC , CM000674.2:g.8945123_8945124insAC	GRCh38
NC_000012.11:g.9097719_9097720insAC , CM000674.1:g.9097719_9097720insAC	GRCh37
NC_000012.10:g.8988986_8988987insAC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000000412.8:c.343+294_343+295insGT MANE Select	ENSP00000000412.3:n.343+294_343+295insGT
ENST00000000412.7:c.343+294_343+295insGT	ENSP00000000412.3:n.343+294_343+295insGT
ENST00000536844.5:c.343+294_343+295insGT	ENSP00000440488.2:n.343+294_343+295insGT
ENST00000541507.5:c.343+294_343+295insGT	ENSP00000442100.1:n.343+294_343+295insGT
ENST00000543258.1:c.179+294_179+295insGT
ENST00000543704.5:c.66+1179_66+1180insGT	ENSP00000437595.1:n.66+1179_66+1180insGT
ENST00000543834.1:n.62+294_62+295insGT
ENST00000544245.1:c.-12+294_-12+295insGT	ENSP00000439968.1:n.-12+294_-12+295insGT
NM_001207024.1:c.343+294_343+295insGT	NP_001193953.1:n.343+294_343+295insGT
NM_002355.3:c.343+294_343+295insGT	NP_002346.1:n.343+294_343+295insGT
XM_005253376.1:c.343+294_343+295insGT	XP_005253433.1:n.343+294_343+295insGT
XM_011520672.1:c.343+294_343+295insGT	XP_011518974.1:n.343+294_343+295insGT
XM_005253376.2:c.343+294_343+295insGT	XP_005253433.1:n.343+294_343+295insGT
NM_002355.4:c.343+294_343+295insGT MANE Select	NP_002346.1:n.343+294_343+295insGT
NM_001207024.2:c.343+294_343+295insGT	NP_001193953.1:n.343+294_343+295insGT