Canonical Allele Identifier: CA8314975
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs773567277
ExAC: 17:4837220 TCAGAGCCCGCCCCCAGCCC / T
gnomAD v2: 17-4837220-TCAGAGCCCGCCCCCAGCCC-T
gnomAD v3: 17-4933925-TCAGAGCCCGCCCCCAGCCC-T
gnomAD v4: 17-4933925-TCAGAGCCCGCCCCCAGCCC-T
MyVariant Identifiers: chr17:g.4837221_4837239del (hg19) chr17:g.4837221_4837248delinsGACCACCCC (hg19) chr17:g.4933926_4933944del (hg38) chr17:g.4933926_4933953delinsGACCACCCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933926_4933944del , CM000679.2:g.4933926_4933944del GRCh38
NC_000017.10:g.4837221_4837239del , CM000679.1:g.4837221_4837239del GRCh37
NC_000017.9:g.4777962_4777980del NCBI36
NG_008767.2:g.6632_6650del

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1322_1340del (GP1BA) MANE Select ENSP00000329380.5:p.Ser441Ter
ENST00000649830.1:c.-888+398_-888+416del (CHRNE) ENSP00000496907.1:n.-888+398_-888+416del
ENST00000329125.5:c.1322_1340del (GP1BA) ENSP00000329380.5:p.Ser441Ter
ENST00000611961.1:c.1273-29_1273-11del (GP1BA) ENSP00000484439.1:n.1273-29_1273-11del
NM_000173.6:c.1322_1340del (GP1BA) NP_000164.5:p.Ser441Ter
NM_000173.7:c.1322_1340del (GP1BA) MANE Select NP_000164.5:p.Ser441Ter
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