Canonical Allele Identifier: CA8314971
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs779537148
ExAC: 17:4837206 CCCCAGAGCCCA / C
gnomAD v2: 17-4837206-CCCCAGAGCCCA-C
gnomAD v4: 17-4933911-CCCCAGAGCCCA-C
MyVariant Identifiers: chr17:g.4837207_4837217del (hg19) chr17:g.4933912_4933922del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933914_4933924del , CM000679.2:g.4933914_4933924del GRCh38
NC_000017.10:g.4837209_4837219del , CM000679.1:g.4837209_4837219del GRCh37
NG_008767.2:g.6620_6630del

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1310_1320del (GP1BA) MANE Select ENSP00000329380.5:p.Pro437LeufsTer?
ENST00000649830.1:c.-888+420_-888+430del (CHRNE) ENSP00000496907.1:n.-888+420_-888+430del
ENST00000329125.5:c.1310_1320del (GP1BA) ENSP00000329380.5:p.Pro437LeufsTer?
ENST00000611961.1:c.1272+38_1273-31del (GP1BA) ENSP00000484439.1:n.1272+38_1273-31del
NM_000173.6:c.1310_1320del (GP1BA) NP_000164.5:p.Pro437LeufsTer?
NM_000173.7:c.1310_1320del (GP1BA) MANE Select NP_000164.5:p.Pro437LeufsTer?
Search 100 bp 5'
Search 100 bp 3'