Canonical Allele Identifier: CA735954180

Gene: ERMAP

Linked Data

• dbSNP Id: rs1331459012
• gnomAD v4: 1-42831113-CA-C
• MyVariant Identifiers: chr1:g.43296785del (hg19) ; chr1:g.42831114del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42831114del , CM000663.2:g.42831114del	GRCh38
NC_000001.10:g.43296785del , CM000663.1:g.43296785del	GRCh37
NC_000001.9:g.43069372del	NCBI36
NG_008749.1:g.19010del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372517.8:c.432del MANE Select	ENSP00000361595.2:p.Ala145ProfsTer16
ENST00000487556.6:n.452-3924del
ENST00000642150.1:n.619del
ENST00000647120.1:n.248-3924del
ENST00000328249.3:c.162del	ENSP00000332439.3:p.Ala55ProfsTer16
ENST00000372514.7:c.432del	ENSP00000361592.3:p.Ala145ProfsTer16
ENST00000372517.6:c.432del	ENSP00000361595.2:p.Ala145ProfsTer16
ENST00000487556.5:n.247-3924del
NM_001017922.1:c.432del	NP_001017922.1:p.Ala145ProfsTer16
NM_018538.3:c.432del	NP_061008.2:p.Ala145ProfsTer16
XM_006710313.2:c.432del	XP_006710376.1:p.Ala145ProfsTer16
XM_011540570.1:c.432del	XP_011538872.1:p.Ala145ProfsTer16
XM_011540571.1:c.432del	XP_011538873.1:p.Ala145ProfsTer16
XM_006710313.4:c.432del	XP_006710376.1:p.Ala145ProfsTer16
XM_011540570.3:c.432del	XP_011538872.1:p.Ala145ProfsTer16
XM_011540571.3:c.432del	XP_011538873.1:p.Ala145ProfsTer16
NM_001017922.2:c.432del MANE Select	NP_001017922.1:p.Ala145ProfsTer16
NM_018538.4:c.432del	NP_061008.2:p.Ala145ProfsTer16