Canonical Allele Identifier: CA980972106
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs1970382634
gnomAD v3: 17-4933907-ACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCG-A
gnomAD v4: 17-4933907-ACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933908_4933945del , CM000679.2:g.4933908_4933945del GRCh38
NC_000017.10:g.4837203_4837240del , CM000679.1:g.4837203_4837240del GRCh37
NG_008767.2:g.6614_6651del

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1304_1341del (GP1BA) MANE Select ENSP00000329380.5:p.Thr435AsnfsTer?
ENST00000649830.1:c.-888+397_-888+434del (CHRNE) ENSP00000496907.1:n.-888+397_-888+434del
ENST00000329125.5:c.1304_1341del (GP1BA) ENSP00000329380.5:p.Thr435AsnfsTer?
ENST00000611961.1:c.1272+32_1273-10del (GP1BA) ENSP00000484439.1:n.1272+32_1273-10del
NM_000173.6:c.1304_1341del (GP1BA) NP_000164.5:p.Thr435AsnfsTer?
NM_000173.7:c.1304_1341del (GP1BA) MANE Select NP_000164.5:p.Thr435AsnfsTer?
Search 100 bp 5'
Search 100 bp 3'