Canonical Allele Identifier: CA624856153
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs1567648447
gnomAD v2: 17-4837181-TCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCC-T
gnomAD v4: 17-4933886-TCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCC-T
MyVariant Identifiers: chr17:g.4837182_4837239del (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933887_4933944del , CM000679.2:g.4933887_4933944del GRCh38
NC_000017.10:g.4837182_4837239del , CM000679.1:g.4837182_4837239del GRCh37
NG_008767.2:g.6593_6650del

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1283_1340del (GP1BA) MANE Select ENSP00000329380.5:p.Ser428Ter
ENST00000649830.1:c.-888+398_-888+455del (CHRNE) ENSP00000496907.1:n.-888+398_-888+455del
ENST00000329125.5:c.1283_1340del (GP1BA) ENSP00000329380.5:p.Ser428Ter
ENST00000611961.1:c.1272+11_1273-11del (GP1BA) ENSP00000484439.1:n.1272+11_1273-11del
NM_000173.6:c.1283_1340del (GP1BA) NP_000164.5:p.Ser428Ter
NM_000173.7:c.1283_1340del (GP1BA) MANE Select NP_000164.5:p.Ser428Ter
Search 100 bp 5'
Search 100 bp 3'