Canonical Allele Identifier: CA287216329
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs868628165
gnomAD v2: 17-4836517-CT-C
MyVariant Identifiers: chr17:g.4836518del (hg19) chr17:g.4933224del (hg38) chr17:g.4933223del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933228del , CM000679.2:g.4933228del GRCh38
NC_000017.10:g.4836523del , CM000679.1:g.4836523del GRCh37
NC_000017.9:g.4777303del NCBI36
NG_008767.2:g.5934del

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.624del (GP1BA) MANE Select ENSP00000329380.5:p.Phe208LeufsTer?
ENST00000649830.1:c.-888+1119del (CHRNE) ENSP00000496907.1:n.-888+1119del
ENST00000329125.5:c.624del (GP1BA) ENSP00000329380.5:p.Phe208LeufsTer?
ENST00000611961.1:c.624del (GP1BA) ENSP00000484439.1:p.Phe208LeufsTer?
NM_000173.6:c.624del (GP1BA) NP_000164.5:p.Phe208LeufsTer?
NM_000173.7:c.624del (GP1BA) MANE Select NP_000164.5:p.Phe208LeufsTer?
Search 100 bp 5'
Search 100 bp 3'