Canonical Allele Identifier: CA1162023559

Gene: GJB4 SMIM12

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34761428_34761429delinsCG , CM000663.2:g.34761428_34761429delinsCG	GRCh38
NC_000001.10:g.35227029_35227030delinsCG , CM000663.1:g.35227029_35227030delinsCG	GRCh37
NC_000001.9:g.34999616_34999617delinsCG	NCBI36
NG_016243.1:g.6688_6689delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339480.3:c.174_175delinsCG (GJB4) MANE Select	ENSP00000345868.1:p.Pro58=
ENST00000339480.1:c.174_175delinsCG (GJB4)	ENSP00000345868.1:p.Pro58=
ENST00000426886.1:c.208-43020_208-43019delinsCG (SMIM12)	ENSP00000429902.1:n.208-43020_208-43019delinsCG
NM_153212.2:c.174_175delinsCG (GJB4)	NP_694944.1:p.Pro58=
XM_011540679.1:c.174_175delinsCG (GJB4)	XP_011538981.1:p.Pro58=
XR_947179.1:n.1002-17980_1002-17979delinsCG
XM_011540679.2:c.174_175delinsCG (GJB4)	XP_011538981.1:p.Pro58=
XR_001737967.1:n.1023+36942_1023+36943delinsCG
NM_153212.3:c.174_175delinsCG (GJB4) MANE Select	NP_694944.1:p.Pro58=