Canonical Allele Identifier: CA1165371712

Gene: ERMAP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42831061_42831063delinsCTG , CM000663.2:g.42831061_42831063delinsCTG	GRCh38
NC_000001.10:g.43296732_43296734delinsCTG , CM000663.1:g.43296732_43296734delinsCTG	GRCh37
NC_000001.9:g.43069319_43069321delinsCTG	NCBI36
NG_008749.1:g.18957_18959delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372517.8:c.379_381delinsCTG MANE Select	ENSP00000361595.2:p.Leu127=
ENST00000487556.6:n.452-3977_452-3975delinsCTG
ENST00000642150.1:n.566_568delinsCTG
ENST00000647120.1:n.248-3977_248-3975delinsCTG
ENST00000328249.3:c.109_111delinsCTG	ENSP00000332439.3:p.Leu37=
ENST00000372514.7:c.379_381delinsCTG	ENSP00000361592.3:p.Leu127=
ENST00000372517.6:c.379_381delinsCTG	ENSP00000361595.2:p.Leu127=
ENST00000487556.5:n.247-3977_247-3975delinsCTG
NM_001017922.1:c.379_381delinsCTG	NP_001017922.1:p.Leu127=
NM_018538.3:c.379_381delinsCTG	NP_061008.2:p.Leu127=
XM_006710313.2:c.379_381delinsCTG	XP_006710376.1:p.Leu127=
XM_011540570.1:c.379_381delinsCTG	XP_011538872.1:p.Leu127=
XM_011540571.1:c.379_381delinsCTG	XP_011538873.1:p.Leu127=
XM_006710313.4:c.379_381delinsCTG	XP_006710376.1:p.Leu127=
XM_011540570.3:c.379_381delinsCTG	XP_011538872.1:p.Leu127=
XM_011540571.3:c.379_381delinsCTG	XP_011538873.1:p.Leu127=
NM_001017922.2:c.379_381delinsCTG MANE Select	NP_001017922.1:p.Leu127=
NM_018538.4:c.379_381delinsCTG	NP_061008.2:p.Leu127=