Canonical Allele Identifier: CA772700310
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs1192297848
gnomAD v3: 17-4932376-GT-G
gnomAD v4: 17-4932376-GT-G
MyVariant Identifiers: chr17:g.4835672del (hg19) chr17:g.4932377del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4932378del , CM000679.2:g.4932378del GRCh38
NC_000017.10:g.4835673del , CM000679.1:g.4835673del GRCh37
NC_000017.9:g.4776453del NCBI36
NG_008767.2:g.5084del

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.-7+13del (GP1BA) MANE Select ENSP00000329380.5:n.-7+13del
ENST00000649830.1:c.-888+1965del (CHRNE) ENSP00000496907.1:n.-888+1965del
ENST00000329125.5:c.-7+13del (GP1BA) ENSP00000329380.5:n.-7+13del
ENST00000611961.1:c.-7+13del (GP1BA) ENSP00000484439.1:n.-7+13del
NM_000173.6:c.-7+13del (GP1BA) NP_000164.5:n.-7+13del
NM_000173.7:c.-7+13del (GP1BA) MANE Select NP_000164.5:n.-7+13del
Search 100 bp 5'
Search 100 bp 3'