Canonical Allele Identifier: CA8314961
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs767681810
ExAC: 17:4837184 GAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCA / G
MyVariant Identifiers: chr17:g.4837185_4837222del (hg19) chr17:g.4933890_4933927del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933890_4933927del , CM000679.2:g.4933890_4933927del GRCh38
NC_000017.10:g.4837185_4837222del , CM000679.1:g.4837185_4837222del GRCh37
NG_008767.2:g.6596_6633del

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1286_1323del (GP1BA) MANE Select ENSP00000329380.5:p.Glu429GlyfsTer?
ENST00000649830.1:c.-888+415_-888+452del (CHRNE) ENSP00000496907.1:n.-888+415_-888+452del
ENST00000329125.5:c.1286_1323del (GP1BA) ENSP00000329380.5:p.Glu429GlyfsTer?
ENST00000611961.1:c.1272+14_1273-28del (GP1BA) ENSP00000484439.1:n.1272+14_1273-28del
NM_000173.6:c.1286_1323del (GP1BA) NP_000164.5:p.Glu429GlyfsTer?
NM_000173.7:c.1286_1323del (GP1BA) MANE Select NP_000164.5:p.Glu429GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'