Canonical Allele Identifier: CA624856161
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs1441819195
gnomAD v2: 17-4837222-AG-A
gnomAD v3: 17-4933927-AG-A
gnomAD v4: 17-4933927-AG-A
MyVariant Identifiers: chr17:g.4837223del (hg19) chr17:g.4933928del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933928del , CM000679.2:g.4933928del GRCh38
NC_000017.10:g.4837223del , CM000679.1:g.4837223del GRCh37
NC_000017.9:g.4777964del NCBI36
NG_008767.2:g.6634del

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1324del (GP1BA) MANE Select ENSP00000329380.5:p.Glu442SerfsTer30
ENST00000649830.1:c.-888+414del (CHRNE) ENSP00000496907.1:n.-888+414del
ENST00000329125.5:c.1324del (GP1BA) ENSP00000329380.5:p.Glu442SerfsTer30
ENST00000611961.1:c.1273-27del (GP1BA) ENSP00000484439.1:n.1273-27del
NM_000173.6:c.1324del (GP1BA) NP_000164.5:p.Glu442SerfsTer30
NM_000173.7:c.1324del (GP1BA) MANE Select NP_000164.5:p.Glu442SerfsTer30
Search 100 bp 5'
Search 100 bp 3'