Canonical Allele Identifier: CA2574339207

Gene: ERMAP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42830890_42830897del , CM000663.2:g.42830890_42830897del	GRCh38
NC_000001.10:g.43296561_43296568del , CM000663.1:g.43296561_43296568del	GRCh37
NC_000001.9:g.43069148_43069155del	NCBI36
NG_008749.1:g.18786_18793del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372517.8:c.208_215del MANE Select	ENSP00000361595.2:p.Phe70AlafsTer16
ENST00000487556.6:n.452-4148_452-4141del
ENST00000642150.1:n.395_402del
ENST00000647120.1:n.248-4148_248-4141del
ENST00000328249.3:c.-63_-56del	ENSP00000332439.3:n.-63_-56del
ENST00000372514.7:c.208_215del	ENSP00000361592.3:p.Phe70AlafsTer16
ENST00000372517.6:c.208_215del	ENSP00000361595.2:p.Phe70AlafsTer16
ENST00000487556.5:n.247-4148_247-4141del
NM_001017922.1:c.208_215del	NP_001017922.1:p.Phe70AlafsTer16
NM_018538.3:c.208_215del	NP_061008.2:p.Phe70AlafsTer16
XM_006710313.2:c.208_215del	XP_006710376.1:p.Phe70AlafsTer16
XM_011540570.1:c.208_215del	XP_011538872.1:p.Phe70AlafsTer16
XM_011540571.1:c.208_215del	XP_011538873.1:p.Phe70AlafsTer16
XM_006710313.4:c.208_215del	XP_006710376.1:p.Phe70AlafsTer16
XM_011540570.3:c.208_215del	XP_011538872.1:p.Phe70AlafsTer16
XM_011540571.3:c.208_215del	XP_011538873.1:p.Phe70AlafsTer16
NM_001017922.2:c.208_215del MANE Select	NP_001017922.1:p.Phe70AlafsTer16
NM_018538.4:c.208_215del	NP_061008.2:p.Phe70AlafsTer16