Canonical Allele Identifier: CA802741

Gene: ERMAP

Linked Data

• dbSNP Id: rs769626904
• ExAC: 1:43296714 C / CA
• MyVariant Identifiers: chr1:g.43296714_43296715insA (hg19) ; chr1:g.42831043_42831044insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42831045dup , CM000663.2:g.42831045dup	GRCh38
NC_000001.10:g.43296716dup , CM000663.1:g.43296716dup	GRCh37
NC_000001.9:g.43069303dup	NCBI36
NG_008749.1:g.18941dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372517.8:c.363dup MANE Select	ENSP00000361595.2:p.Gly122ArgfsTer14
ENST00000487556.6:n.452-3993dup
ENST00000642150.1:n.550dup
ENST00000647120.1:n.248-3993dup
ENST00000328249.3:c.93dup	ENSP00000332439.3:p.Gly32ArgfsTer14
ENST00000372514.7:c.363dup	ENSP00000361592.3:p.Gly122ArgfsTer14
ENST00000372517.6:c.363dup	ENSP00000361595.2:p.Gly122ArgfsTer14
ENST00000487556.5:n.247-3993dup
NM_001017922.1:c.363dup	NP_001017922.1:p.Gly122ArgfsTer14
NM_018538.3:c.363dup	NP_061008.2:p.Gly122ArgfsTer14
XM_006710313.2:c.363dup	XP_006710376.1:p.Gly122ArgfsTer14
XM_011540570.1:c.363dup	XP_011538872.1:p.Gly122ArgfsTer14
XM_011540571.1:c.363dup	XP_011538873.1:p.Gly122ArgfsTer14
XM_006710313.4:c.363dup	XP_006710376.1:p.Gly122ArgfsTer14
XM_011540570.3:c.363dup	XP_011538872.1:p.Gly122ArgfsTer14
XM_011540571.3:c.363dup	XP_011538873.1:p.Gly122ArgfsTer14
NM_001017922.2:c.363dup MANE Select	NP_001017922.1:p.Gly122ArgfsTer14
NM_018538.4:c.363dup	NP_061008.2:p.Gly122ArgfsTer14