Canonical Allele Identifier: CA2644767017

Gene: GJB4 SMIM12

Linked Data

• gnomAD v4: 1-34761502-TGGTCACGTGCCCCTCACTGCTCGTGGTCATGCACGTGGCCTACCGCGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34761505_34761552del , CM000663.2:g.34761505_34761552del	GRCh38
NC_000001.10:g.35227106_35227153del , CM000663.1:g.35227106_35227153del	GRCh37
NC_000001.9:g.34999693_34999740del	NCBI36
NG_016243.1:g.6765_6812del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339480.3:c.251_298del (GJB4) MANE Select	ENSP00000345868.1:p.Val84_Glu99del
ENST00000339480.1:c.251_298del (GJB4)	ENSP00000345868.1:p.Val84_Glu99del
ENST00000426886.1:c.208-43141_208-43094del (SMIM12)	ENSP00000429902.1:n.208-43141_208-43094del
NM_153212.2:c.251_298del (GJB4)	NP_694944.1:p.Val84_Glu99del
XM_011540679.1:c.251_298del (GJB4)	XP_011538981.1:p.Val84_Glu99del
XR_947179.1:n.1002-18101_1002-18054del
XM_011540679.2:c.251_298del (GJB4)	XP_011538981.1:p.Val84_Glu99del
XR_001737967.1:n.1023+36821_1023+36868del
NM_153212.3:c.251_298del (GJB4) MANE Select	NP_694944.1:p.Val84_Glu99del