Canonical Allele Identifier: CA802748

Gene: ERMAP

Linked Data

• dbSNP Id: rs773307424
• ExAC: 1:43296732 CTG / C
• MyVariant Identifiers: chr1:g.43296733_43296734del (hg19) ; chr1:g.42831062_42831063del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42831062_42831063del , CM000663.2:g.42831062_42831063del	GRCh38
NC_000001.10:g.43296733_43296734del , CM000663.1:g.43296733_43296734del	GRCh37
NC_000001.9:g.43069320_43069321del	NCBI36
NG_008749.1:g.18958_18959del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372517.8:c.380_381del MANE Select	ENSP00000361595.2:p.Leu127HisfsTer8
ENST00000487556.6:n.452-3976_452-3975del
ENST00000642150.1:n.567_568del
ENST00000647120.1:n.248-3976_248-3975del
ENST00000328249.3:c.110_111del	ENSP00000332439.3:p.Leu37HisfsTer8
ENST00000372514.7:c.380_381del	ENSP00000361592.3:p.Leu127HisfsTer8
ENST00000372517.6:c.380_381del	ENSP00000361595.2:p.Leu127HisfsTer8
ENST00000487556.5:n.247-3976_247-3975del
NM_001017922.1:c.380_381del	NP_001017922.1:p.Leu127HisfsTer8
NM_018538.3:c.380_381del	NP_061008.2:p.Leu127HisfsTer8
XM_006710313.2:c.380_381del	XP_006710376.1:p.Leu127HisfsTer8
XM_011540570.1:c.380_381del	XP_011538872.1:p.Leu127HisfsTer8
XM_011540571.1:c.380_381del	XP_011538873.1:p.Leu127HisfsTer8
XM_006710313.4:c.380_381del	XP_006710376.1:p.Leu127HisfsTer8
XM_011540570.3:c.380_381del	XP_011538872.1:p.Leu127HisfsTer8
XM_011540571.3:c.380_381del	XP_011538873.1:p.Leu127HisfsTer8
NM_001017922.2:c.380_381del MANE Select	NP_001017922.1:p.Leu127HisfsTer8
NM_018538.4:c.380_381del	NP_061008.2:p.Leu127HisfsTer8