Canonical Allele Identifier: CA2573054472
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 1338316
ClinVar RCV Id: RCV001817687
dbSNP Id: rs2151108385
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933909_4933948delinsT , CM000679.2:g.4933909_4933948delinsT GRCh38
NC_000017.10:g.4837204_4837243delinsT , CM000679.1:g.4837204_4837243delinsT GRCh37
NG_008767.2:g.6615_6654delinsT

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1305_1344delinsT (GP1BA) MANE Select ENSP00000329380.5:p.Thr436_Thr448del
ENST00000649830.1:c.-888+394_-888+433delinsA (CHRNE) ENSP00000496907.1:n.-888+394_-888+433delinsA
ENST00000329125.5:c.1305_1344delinsT (GP1BA) ENSP00000329380.5:p.Thr436_Thr448del
ENST00000611961.1:c.1272+33_1273-7delinsT (GP1BA) ENSP00000484439.1:n.1272+33_1273-7delinsT
NM_000173.6:c.1305_1344delinsT (GP1BA) NP_000164.5:p.Thr436_Thr448del
NM_000173.7:c.1305_1344delinsT (GP1BA) MANE Select NP_000164.5:p.Thr436_Thr448del
Search 100 bp 5'
Search 100 bp 3'