Canonical Allele Identifier: CA8314941
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs777036612
ExAC: 17:4837147 GCCCGCCCCCAGCCCGACCACCCCGGAGCCCA / G
gnomAD v4: 17-4933852-GCCCGCCCCCAGCCCGACCACCCCGGAGCCCA-G
MyVariant Identifiers: chr17:g.4837148_4837178del (hg19) chr17:g.4933853_4933883del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933855_4933885del , CM000679.2:g.4933855_4933885del GRCh38
NC_000017.10:g.4837150_4837180del , CM000679.1:g.4837150_4837180del GRCh37
NG_008767.2:g.6561_6591del

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1251_1281del (GP1BA) MANE Select ENSP00000329380.5:p.Ala418GlnfsTer?
ENST00000649830.1:c.-888+459_-888+489del (CHRNE) ENSP00000496907.1:n.-888+459_-888+489del
ENST00000329125.5:c.1251_1281del (GP1BA) ENSP00000329380.5:p.Ala418GlnfsTer?
ENST00000611961.1:c.1251_1272+9del (GP1BA)
NM_000173.6:c.1251_1281del (GP1BA) NP_000164.5:p.Ala418GlnfsTer?
NM_000173.7:c.1251_1281del (GP1BA) MANE Select NP_000164.5:p.Ala418GlnfsTer?
Search 100 bp 5'
Search 100 bp 3'