Canonical Allele Identifier: CA2617524622

Gene: M6PR

Linked Data

• gnomAD v4: 12-8945169-AAAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8945172_8945174del , CM000674.2:g.8945172_8945174del	GRCh38
NC_000012.11:g.9097768_9097770del , CM000674.1:g.9097768_9097770del	GRCh37
NC_000012.10:g.8989035_8989037del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000000412.8:c.343+246_343+248del MANE Select	ENSP00000000412.3:n.343+246_343+248del
ENST00000000412.7:c.343+246_343+248del	ENSP00000000412.3:n.343+246_343+248del
ENST00000536844.5:c.343+246_343+248del	ENSP00000440488.2:n.343+246_343+248del
ENST00000541507.5:c.343+246_343+248del	ENSP00000442100.1:n.343+246_343+248del
ENST00000543258.1:c.179+246_179+248del
ENST00000543704.5:c.66+1131_66+1133del	ENSP00000437595.1:n.66+1131_66+1133del
ENST00000543834.1:n.62+246_62+248del
ENST00000544245.1:c.-12+246_-12+248del	ENSP00000439968.1:n.-12+246_-12+248del
NM_001207024.1:c.343+246_343+248del	NP_001193953.1:n.343+246_343+248del
NM_002355.3:c.343+246_343+248del	NP_002346.1:n.343+246_343+248del
XM_005253376.1:c.343+246_343+248del	XP_005253433.1:n.343+246_343+248del
XM_011520672.1:c.343+246_343+248del	XP_011518974.1:n.343+246_343+248del
XM_005253376.2:c.343+246_343+248del	XP_005253433.1:n.343+246_343+248del
NM_002355.4:c.343+246_343+248del MANE Select	NP_002346.1:n.343+246_343+248del
NM_001207024.2:c.343+246_343+248del	NP_001193953.1:n.343+246_343+248del