Canonical Allele Identifier: CA2263559941
Gene: PHB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.49409182_49409183delinsAG , CM000679.2:g.49409182_49409183delinsAG GRCh38
NC_000017.10:g.47486544_47486545delinsAG , CM000679.1:g.47486544_47486545delinsAG GRCh37
NC_000017.9:g.44841543_44841544delinsAG NCBI36
NG_023046.1:g.10698_10699delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000696365.1:c.394-25_394-24delinsCT ENSP00000512581.1:n.394-25_394-24delinsCT
ENST00000300408.8:c.394-25_394-24delinsCT MANE Select ENSP00000300408.3:n.394-25_394-24delinsCT
ENST00000419140.7:c.394-25_394-24delinsCT ENSP00000393320.3:n.394-25_394-24delinsCT
ENST00000434917.3:n.485-25_485-24delinsCT
ENST00000446735.6:c.232-25_232-24delinsCT ENSP00000407828.2:n.232-25_232-24delinsCT
ENST00000504124.6:c.394-25_394-24delinsCT ENSP00000426433.3:n.394-25_394-24delinsCT
ENST00000508009.6:n.485-25_485-24delinsCT
ENST00000511832.6:c.394-25_394-24delinsCT ENSP00000425035.2:n.394-25_394-24delinsCT
ENST00000512041.7:c.394-25_394-24delinsCT ENSP00000422182.3:n.394-25_394-24delinsCT
ENST00000614445.5:c.394-25_394-24delinsCT ENSP00000479488.1:n.394-25_394-24delinsCT
ENST00000617874.5:c.394-25_394-24delinsCT ENSP00000484113.1:n.394-25_394-24delinsCT
ENST00000300408.7:c.394-25_394-24delinsCT ENSP00000300408.3:n.394-25_394-24delinsCT
ENST00000393345.8:n.445-25_445-24delinsCT
ENST00000419140.6:c.394-25_394-24delinsCT ENSP00000393320.2:n.394-25_394-24delinsCT
ENST00000446735.5:c.394-25_394-24delinsCT ENSP00000407828.1:n.394-25_394-24delinsCT
ENST00000504124.5:c.394-25_394-24delinsCT ENSP00000426433.2:n.394-25_394-24delinsCT
ENST00000506273.1:n.349-25_349-24delinsCT
ENST00000508009.5:n.221-25_221-24delinsCT
ENST00000511832.5:c.394-25_394-24delinsCT ENSP00000425035.1:n.394-25_394-24delinsCT
ENST00000512041.6:c.394-25_394-24delinsCT ENSP00000422182.2:n.394-25_394-24delinsCT
ENST00000614445.4:c.394-25_394-24delinsCT ENSP00000479488.1:n.394-25_394-24delinsCT
ENST00000617874.4:c.394-25_394-24delinsCT ENSP00000484113.1:n.394-25_394-24delinsCT
NM_001281496.1:c.394-25_394-24delinsCT NP_001268425.1:n.394-25_394-24delinsCT
NM_001281497.1:c.394-25_394-24delinsCT NP_001268426.1:n.394-25_394-24delinsCT
NM_001281715.1:c.394-25_394-24delinsCT NP_001268644.1:n.394-25_394-24delinsCT
NM_002634.3:c.394-25_394-24delinsCT NP_002625.1:n.394-25_394-24delinsCT
XM_017024763.1:c.394-25_394-24delinsCT XP_016880252.1:n.394-25_394-24delinsCT
NM_002634.4:c.394-25_394-24delinsCT MANE Select NP_002625.1:n.394-25_394-24delinsCT
NM_001281496.2:c.394-25_394-24delinsCT NP_001268425.1:n.394-25_394-24delinsCT
NM_001281497.2:c.394-25_394-24delinsCT NP_001268426.1:n.394-25_394-24delinsCT
NM_001281715.2:c.394-25_394-24delinsCT NP_001268644.1:n.394-25_394-24delinsCT