Canonical Allele Identifier: CA2617524595

Gene: M6PR

Linked Data

• gnomAD v4: 12-8945139-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8945147_8945148del , CM000674.2:g.8945147_8945148del	GRCh38
NC_000012.11:g.9097743_9097744del , CM000674.1:g.9097743_9097744del	GRCh37
NC_000012.10:g.8989010_8989011del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000000412.8:c.343+277_343+278del MANE Select	ENSP00000000412.3:n.343+277_343+278del
ENST00000000412.7:c.343+277_343+278del	ENSP00000000412.3:n.343+277_343+278del
ENST00000536844.5:c.343+277_343+278del	ENSP00000440488.2:n.343+277_343+278del
ENST00000541507.5:c.343+277_343+278del	ENSP00000442100.1:n.343+277_343+278del
ENST00000543258.1:c.179+277_179+278del
ENST00000543704.5:c.66+1162_66+1163del	ENSP00000437595.1:n.66+1162_66+1163del
ENST00000543834.1:n.62+277_62+278del
ENST00000544245.1:c.-12+277_-12+278del	ENSP00000439968.1:n.-12+277_-12+278del
NM_001207024.1:c.343+277_343+278del	NP_001193953.1:n.343+277_343+278del
NM_002355.3:c.343+277_343+278del	NP_002346.1:n.343+277_343+278del
XM_005253376.1:c.343+277_343+278del	XP_005253433.1:n.343+277_343+278del
XM_011520672.1:c.343+277_343+278del	XP_011518974.1:n.343+277_343+278del
XM_005253376.2:c.343+277_343+278del	XP_005253433.1:n.343+277_343+278del
NM_002355.4:c.343+277_343+278del MANE Select	NP_002346.1:n.343+277_343+278del
NM_001207024.2:c.343+277_343+278del	NP_001193953.1:n.343+277_343+278del