Canonical Allele Identifier: CA2573152978
Community Standard Title: NM_000173.7(GP1BA):c.1326_1334del (p.Glu442_Pro445delinsAsp)
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933930_4933938del , CM000679.2:g.4933930_4933938del GRCh38
NC_000017.10:g.4837225_4837233del , CM000679.1:g.4837225_4837233del GRCh37
NC_000017.9:g.4777966_4777974del NCBI36
NG_008767.2:g.6636_6644del

Transcript Alleles

HGVS Amino-acid Change
NM_000173.7:c.1326_1334del (GP1BA) MANE Select NP_000164.5:p.Glu442_Pro445delinsAsp
ENST00000329125.6:c.1326_1334del (GP1BA) MANE Select ENSP00000329380.5:p.Glu442_Pro445delinsAsp
NM_000173.6:c.1326_1334del (GP1BA) NP_000164.5:p.Glu442_Pro445delinsAsp
ENST00000329125.5:c.1326_1334del (GP1BA) ENSP00000329380.5:p.Glu442_Pro445delinsAsp
ENST00000611961.1:c.1273-25_1273-17del (GP1BA) ENSP00000484439.1:n.1273-25_1273-17del
ENST00000649830.1:c.-888+404_-888+412del (CHRNE) ENSP00000496907.1:n.-888+404_-888+412del
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