Canonical Allele Identifier: CA624856160
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs1236619136
gnomAD v2: 17-4837219-C-CCCAA
gnomAD v3: 17-4933924-C-CCCAA
gnomAD v4: 17-4933924-C-CCCAA
MyVariant Identifiers: chr17:g.4837219_4837220insCCAA (hg19) chr17:g.4933924_4933925insCCAA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933924_4933925insCCAA , CM000679.2:g.4933924_4933925insCCAA GRCh38
NC_000017.10:g.4837219_4837220insCCAA , CM000679.1:g.4837219_4837220insCCAA GRCh37
NC_000017.9:g.4777960_4777961insCCAA NCBI36
NG_008767.2:g.6630_6631insCCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1320_1321insCCAA (GP1BA) MANE Select ENSP00000329380.5:p.Ser441ProfsTer?
ENST00000649830.1:c.-888+417_-888+418insTTGG (CHRNE) ENSP00000496907.1:n.-888+417_-888+418insTTGG
ENST00000329125.5:c.1320_1321insCCAA (GP1BA) ENSP00000329380.5:p.Ser441ProfsTer?
ENST00000611961.1:c.1273-31_1273-30insCCAA (GP1BA) ENSP00000484439.1:n.1273-31_1273-30insCCAA
NM_000173.6:c.1320_1321insCCAA (GP1BA) NP_000164.5:p.Ser441ProfsTer?
NM_000173.7:c.1320_1321insCCAA (GP1BA) MANE Select NP_000164.5:p.Ser441ProfsTer?
Search 100 bp 5'
Search 100 bp 3'