Canonical Allele Identifier: CA1141705790

Gene: GJB4 SMIM12

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34761405_34761407delinsTTT , CM000663.2:g.34761405_34761407delinsTTT	GRCh38
NC_000001.10:g.35227006_35227008delinsTTT , CM000663.1:g.35227006_35227008delinsTTT	GRCh37
NC_000001.9:g.34999593_34999595delinsTTT	NCBI36
NG_016243.1:g.6665_6667delinsTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339480.3:c.151_153delinsTTT (GJB4) MANE Select	ENSP00000345868.1:p.Phe51=
ENST00000339480.1:c.151_153delinsTTT (GJB4)	ENSP00000345868.1:p.Phe51=
ENST00000426886.1:c.208-42998_208-42996delinsAAA (SMIM12)	ENSP00000429902.1:n.208-42998_208-42996delinsAAA
NM_153212.2:c.151_153delinsTTT (GJB4)	NP_694944.1:p.Phe51=
XM_011540679.1:c.151_153delinsTTT (GJB4)	XP_011538981.1:p.Phe51=
XR_947179.1:n.1002-17958_1002-17956delinsAAA
XM_011540679.2:c.151_153delinsTTT (GJB4)	XP_011538981.1:p.Phe51=
XR_001737967.1:n.1023+36964_1023+36966delinsAAA
NM_153212.3:c.151_153delinsTTT (GJB4) MANE Select	NP_694944.1:p.Phe51=