Canonical Allele Identifier: CA2644767019
Gene: GJB4 HGNC NCBI
SMIM12 HGNC NCBI

Linked Data

gnomAD v4: 1-34761581-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34761584del , CM000663.2:g.34761584del GRCh38
NC_000001.10:g.35227185del , CM000663.1:g.35227185del GRCh37
NC_000001.9:g.34999772del NCBI36
NG_016243.1:g.6844del

Transcript Alleles

HGVS Amino-acid Change
ENST00000339480.3:c.330del (GJB4) MANE Select ENSP00000345868.1:p.Asn112MetfsTer9
ENST00000339480.1:c.330del (GJB4) ENSP00000345868.1:p.Asn112MetfsTer9
ENST00000426886.1:c.208-43173del (SMIM12) ENSP00000429902.1:n.208-43173del
NM_153212.2:c.330del (GJB4) NP_694944.1:p.Asn112MetfsTer9
XM_011540679.1:c.330del (GJB4) XP_011538981.1:p.Asn112MetfsTer9
XR_947179.1:n.1002-18133del
XM_011540679.2:c.330del (GJB4) XP_011538981.1:p.Asn112MetfsTer9
XR_001737967.1:n.1023+36789del
NM_153212.3:c.330del (GJB4) MANE Select NP_694944.1:p.Asn112MetfsTer9
Search 100 bp 5'
Search 100 bp 3'