Canonical Allele Identifier: CA8314963
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs755823423
ExAC: 17:4837190 GCCCCCAGCCCGACCACCCCAGAGCCCACC / G
MyVariant Identifiers: chr17:g.4837191_4837219del (hg19) chr17:g.4933896_4933924del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933896_4933924del , CM000679.2:g.4933896_4933924del GRCh38
NC_000017.10:g.4837191_4837219del , CM000679.1:g.4837191_4837219del GRCh37
NG_008767.2:g.6602_6630del

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1292_1320del (GP1BA) MANE Select ENSP00000329380.5:p.Ala431ValfsTer?
ENST00000649830.1:c.-888+418_-888+446del (CHRNE) ENSP00000496907.1:n.-888+418_-888+446del
ENST00000329125.5:c.1292_1320del (GP1BA) ENSP00000329380.5:p.Ala431ValfsTer?
ENST00000611961.1:c.1272+20_1273-31del (GP1BA) ENSP00000484439.1:n.1272+20_1273-31del
NM_000173.6:c.1292_1320del (GP1BA) NP_000164.5:p.Ala431ValfsTer?
NM_000173.7:c.1292_1320del (GP1BA) MANE Select NP_000164.5:p.Ala431ValfsTer?
Search 100 bp 5'
Search 100 bp 3'