Canonical Allele Identifier: CA8315005
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 1691251
ClinVar RCV Id: RCV002254237 RCV002280915
dbSNP Id: rs759573909
ExAC: 17:4837372 CA / C
gnomAD v2: 17-4837372-CA-C
gnomAD v3: 17-4934077-CA-C
gnomAD v4: 17-4934077-CA-C
COSMIC: COSM179009
MyVariant Identifiers: chr17:g.4837373del (hg19) chr17:g.4934078del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4934084del , CM000679.2:g.4934084del GRCh38
NC_000017.10:g.4837379del , CM000679.1:g.4837379del GRCh37
NC_000017.9:g.4778120del NCBI36
NG_008767.2:g.6790del

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1480del (GP1BA) MANE Select ENSP00000329380.5:p.Thr494ProfsTer?
ENST00000649830.1:c.-888+264del (CHRNE) ENSP00000496907.1:n.-888+264del
ENST00000329125.5:c.1480del (GP1BA) ENSP00000329380.5:p.Thr494ProfsTer?
ENST00000611961.1:c.1402del (GP1BA) ENSP00000484439.1:p.Thr468ProfsTer?
NM_000173.6:c.1480del (GP1BA) NP_000164.5:p.Thr494ProfsTer?
NM_000173.7:c.1480del (GP1BA) MANE Select NP_000164.5:p.Thr494ProfsTer?
Search 100 bp 5'
Search 100 bp 3'