Canonical Allele Identifier: CA2015276245

Gene: M6PR

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8945139_8945143delinsCAGAG , CM000674.2:g.8945139_8945143delinsCAGAG	GRCh38
NC_000012.11:g.9097735_9097739delinsCAGAG , CM000674.1:g.9097735_9097739delinsCAGAG	GRCh37
NC_000012.10:g.8989002_8989006delinsCAGAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000000412.8:c.343+275_343+279delinsCTCTG MANE Select	ENSP00000000412.3:n.343+275_343+279delinsCTCTG
ENST00000000412.7:c.343+275_343+279delinsCTCTG	ENSP00000000412.3:n.343+275_343+279delinsCTCTG
ENST00000536844.5:c.343+275_343+279delinsCTCTG	ENSP00000440488.2:n.343+275_343+279delinsCTCTG
ENST00000541507.5:c.343+275_343+279delinsCTCTG	ENSP00000442100.1:n.343+275_343+279delinsCTCTG
ENST00000543258.1:c.179+275_179+279delinsCTCTG
ENST00000543704.5:c.66+1160_66+1164delinsCTCTG	ENSP00000437595.1:n.66+1160_66+1164delinsCTCTG
ENST00000543834.1:n.62+275_62+279delinsCTCTG
ENST00000544245.1:c.-12+275_-12+279delinsCTCTG	ENSP00000439968.1:n.-12+275_-12+279delinsCTCTG
NM_001207024.1:c.343+275_343+279delinsCTCTG	NP_001193953.1:n.343+275_343+279delinsCTCTG
NM_002355.3:c.343+275_343+279delinsCTCTG	NP_002346.1:n.343+275_343+279delinsCTCTG
XM_005253376.1:c.343+275_343+279delinsCTCTG	XP_005253433.1:n.343+275_343+279delinsCTCTG
XM_011520672.1:c.343+275_343+279delinsCTCTG	XP_011518974.1:n.343+275_343+279delinsCTCTG
XM_005253376.2:c.343+275_343+279delinsCTCTG	XP_005253433.1:n.343+275_343+279delinsCTCTG
NM_002355.4:c.343+275_343+279delinsCTCTG MANE Select	NP_002346.1:n.343+275_343+279delinsCTCTG
NM_001207024.2:c.343+275_343+279delinsCTCTG	NP_001193953.1:n.343+275_343+279delinsCTCTG