Canonical Allele Identifier: CA556701581

Gene: GPM6A

Linked Data

• dbSNP Id: rs1229497522
• gnomAD v2: 4-176662010-AG-A
• gnomAD v3: 4-175740859-AG-A
• gnomAD v4: 4-175740859-AG-A
• MyVariant Identifiers: chr4:g.176662011del (hg19) ; chr4:g.175740860del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.175740862del , CM000666.2:g.175740862del	GRCh38
NC_000004.11:g.176662013del , CM000666.1:g.176662013del	GRCh37
NC_000004.10:g.176899007del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000393658.7:c.38-39093del MANE Select	ENSP00000377268.2:n.38-39093del
ENST00000280187.11:c.38-39093del	ENSP00000280187.7:n.38-39093del
ENST00000393658.6:c.38-39093del	ENSP00000377268.2:n.38-39093del
ENST00000502754.5:c.-152-39093del	ENSP00000426821.1:n.-152-39093del
ENST00000503397.5:c.14-39093del	ENSP00000422959.1:n.14-39093del
ENST00000505304.1:c.17-39093del	ENSP00000425463.1:n.17-39093del
ENST00000505375.5:c.-152-39093del	ENSP00000424125.1:n.-152-39093del
ENST00000505561.5:c.-152-39093del	ENSP00000425409.1:n.-152-39093del
ENST00000506894.5:c.5-39093del	ENSP00000421578.1:n.5-39093del
ENST00000507520.5:c.-152-39093del	ENSP00000424075.1:n.-152-39093del
ENST00000507540.1:c.-152-39093del	ENSP00000421407.1:n.-152-39093del
ENST00000509865.5:c.-152-39093del	ENSP00000422712.1:n.-152-39093del
ENST00000512509.5:c.-152-39093del	ENSP00000424443.1:n.-152-39093del
ENST00000512610.5:c.-152-39093del	ENSP00000426984.1:n.-152-39093del
ENST00000512897.5:c.-152-39093del	ENSP00000425925.1:n.-152-39093del
ENST00000513365.1:c.38-39093del	ENSP00000423122.1:n.38-39093del
ENST00000513667.5:c.-152-39093del	ENSP00000421373.1:n.-152-39093del
ENST00000515090.5:c.17-39093del	ENSP00000423984.1:n.17-39093del
NM_001261447.1:c.283-88873del	NP_001248376.1:n.283-88873del
NM_001261448.1:c.17-39093del	NP_001248377.1:n.17-39093del
NM_005277.4:c.38-39093del	NP_005268.1:n.38-39093del
NM_201591.2:c.38-39093del	NP_963885.1:n.38-39093del
NM_201592.2:c.5-39093del	NP_963886.1:n.5-39093del
NR_048571.1:n.442+71331del
XM_011531877.1:c.-152-39093del	XP_011530179.1:n.-152-39093del
NM_001388090.1:c.-152-39093del	NP_001375019.1:n.-152-39093del
NM_005277.5:c.38-39093del	NP_005268.1:n.38-39093del
NM_201591.3:c.38-39093del MANE Select	NP_963885.1:n.38-39093del
NM_201592.3:c.5-39093del	NP_963886.1:n.5-39093del