Canonical Allele Identifier: CA2743144122

Gene: GJB4 SMIM12

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34761421_34761422insACACACCCAAC , CM000663.2:g.34761421_34761422insACACACCCAAC	GRCh38
NC_000001.10:g.35227022_35227023insACACACCCAAC , CM000663.1:g.35227022_35227023insACACACCCAAC	GRCh37
NC_000001.9:g.34999609_34999610insACACACCCAAC	NCBI36
NG_016243.1:g.6681_6682insACACACCCAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339480.3:c.167_168insACACACCCAAC (GJB4) MANE Select	ENSP00000345868.1:p.Gln57HisfsTer?
ENST00000339480.1:c.167_168insACACACCCAAC (GJB4)	ENSP00000345868.1:p.Gln57HisfsTer?
ENST00000426886.1:c.208-43013_208-43012insGTTGGGTGTGT (SMIM12)	ENSP00000429902.1:n.208-43013_208-43012insGTTGGGTGTGT
NM_153212.2:c.167_168insACACACCCAAC (GJB4)	NP_694944.1:p.Gln57HisfsTer?
XM_011540679.1:c.167_168insACACACCCAAC (GJB4)	XP_011538981.1:p.Gln57HisfsTer?
XR_947179.1:n.1002-17973_1002-17972insGTTGGGTGTGT
XM_011540679.2:c.167_168insACACACCCAAC (GJB4)	XP_011538981.1:p.Gln57HisfsTer?
XR_001737967.1:n.1023+36949_1023+36950insGTTGGGTGTGT
NM_153212.3:c.167_168insACACACCCAAC (GJB4) MANE Select	NP_694944.1:p.Gln57HisfsTer?