Canonical Allele Identifier: CA2638620894

Gene: PHB1

Linked Data

• gnomAD v4: 17-49409119-GCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49409126_49409127del , CM000679.2:g.49409126_49409127del	GRCh38
NC_000017.10:g.47486488_47486489del , CM000679.1:g.47486488_47486489del	GRCh37
NC_000017.9:g.44841487_44841488del	NCBI36
NG_023046.1:g.10760_10761del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696365.1:c.417+14_417+15del	ENSP00000512581.1:n.417+14_417+15del
ENST00000300408.8:c.431_432del MANE Select	ENSP00000300408.3:p.Glu144AlafsTer23
ENST00000419140.7:c.431_432del	ENSP00000393320.3:p.Glu144AlafsTer23
ENST00000434917.3:n.522_523del
ENST00000446735.6:c.269_270del	ENSP00000407828.2:p.Glu90AlafsTer23
ENST00000504124.6:c.431_432del	ENSP00000426433.3:p.Glu144AlafsTer23
ENST00000508009.6:n.522_523del
ENST00000511832.6:c.431_432del	ENSP00000425035.2:p.Glu144AlafsTer23
ENST00000512041.7:c.431_432del	ENSP00000422182.3:p.Glu144AlafsTer23
ENST00000614445.5:c.431_432del	ENSP00000479488.1:p.Glu144AlafsTer23
ENST00000617874.5:c.431_432del	ENSP00000484113.1:p.Glu144AlafsTer23
ENST00000300408.7:c.431_432del	ENSP00000300408.3:p.Glu144AlafsTer23
ENST00000393345.8:n.482_483del
ENST00000419140.6:c.431_432del	ENSP00000393320.2:p.Glu144AlafsTer23
ENST00000446735.5:c.431_432del	ENSP00000407828.1:p.Glu144AlafsTer23
ENST00000504124.5:c.431_432del	ENSP00000426433.2:p.Glu144AlafsTer23
ENST00000506273.1:n.386_387del
ENST00000508009.5:n.258_259del
ENST00000511832.5:c.417+14_417+15del	ENSP00000425035.1:n.417+14_417+15del
ENST00000512041.6:c.431_432del	ENSP00000422182.2:p.Glu144AlafsTer23
ENST00000614445.4:c.431_432del	ENSP00000479488.1:p.Glu144AlafsTer23
ENST00000617874.4:c.431_432del	ENSP00000484113.1:p.Glu144AlafsTer23
NM_001281496.1:c.431_432del	NP_001268425.1:p.Glu144AlafsTer23
NM_001281497.1:c.417+14_417+15del	NP_001268426.1:n.417+14_417+15del
NM_001281715.1:c.431_432del	NP_001268644.1:p.Glu144AlafsTer23
NM_002634.3:c.431_432del	NP_002625.1:p.Glu144AlafsTer23
XM_017024763.1:c.431_432del	XP_016880252.1:p.Glu144AlafsTer23
NM_002634.4:c.431_432del MANE Select	NP_002625.1:p.Glu144AlafsTer23
NM_001281496.2:c.431_432del	NP_001268425.1:p.Glu144AlafsTer23
NM_001281497.2:c.417+14_417+15del	NP_001268426.1:n.417+14_417+15del
NM_001281715.2:c.431_432del	NP_001268644.1:p.Glu144AlafsTer23