Canonical Allele Identifier: CA2617524600

Gene: M6PR

Linked Data

• gnomAD v4: 12-8945144-A-AGG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8945145_8945146insGG , CM000674.2:g.8945145_8945146insGG	GRCh38
NC_000012.11:g.9097741_9097742insGG , CM000674.1:g.9097741_9097742insGG	GRCh37
NC_000012.10:g.8989008_8989009insGG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000000412.8:c.343+273_343+274insCC MANE Select	ENSP00000000412.3:n.343+273_343+274insCC
ENST00000000412.7:c.343+273_343+274insCC	ENSP00000000412.3:n.343+273_343+274insCC
ENST00000536844.5:c.343+273_343+274insCC	ENSP00000440488.2:n.343+273_343+274insCC
ENST00000541507.5:c.343+273_343+274insCC	ENSP00000442100.1:n.343+273_343+274insCC
ENST00000543258.1:c.179+273_179+274insCC
ENST00000543704.5:c.66+1158_66+1159insCC	ENSP00000437595.1:n.66+1158_66+1159insCC
ENST00000543834.1:n.62+273_62+274insCC
ENST00000544245.1:c.-12+273_-12+274insCC	ENSP00000439968.1:n.-12+273_-12+274insCC
NM_001207024.1:c.343+273_343+274insCC	NP_001193953.1:n.343+273_343+274insCC
NM_002355.3:c.343+273_343+274insCC	NP_002346.1:n.343+273_343+274insCC
XM_005253376.1:c.343+273_343+274insCC	XP_005253433.1:n.343+273_343+274insCC
XM_011520672.1:c.343+273_343+274insCC	XP_011518974.1:n.343+273_343+274insCC
XM_005253376.2:c.343+273_343+274insCC	XP_005253433.1:n.343+273_343+274insCC
NM_002355.4:c.343+273_343+274insCC MANE Select	NP_002346.1:n.343+273_343+274insCC
NM_001207024.2:c.343+273_343+274insCC	NP_001193953.1:n.343+273_343+274insCC