Canonical Allele Identifier: CA2635579327
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

gnomAD v4: 17-4934049-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4934053del , CM000679.2:g.4934053del GRCh38
NC_000017.10:g.4837348del , CM000679.1:g.4837348del GRCh37
NC_000017.9:g.4778089del NCBI36
NG_008767.2:g.6759del

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1449del (GP1BA) MANE Select ENSP00000329380.5:p.Lys483AsnfsTer6
ENST00000649830.1:c.-888+292del (CHRNE) ENSP00000496907.1:n.-888+292del
ENST00000329125.5:c.1449del (GP1BA) ENSP00000329380.5:p.Lys483AsnfsTer6
ENST00000611961.1:c.1371del (GP1BA) ENSP00000484439.1:p.Lys457AsnfsTer6
NM_000173.6:c.1449del (GP1BA) NP_000164.5:p.Lys483AsnfsTer6
NM_000173.7:c.1449del (GP1BA) MANE Select NP_000164.5:p.Lys483AsnfsTer6
Search 100 bp 5'
Search 100 bp 3'