Canonical Allele Identifier: CA2695224142
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4932921_4932929del , CM000679.2:g.4932921_4932929del GRCh38
NC_000017.10:g.4836216_4836224del , CM000679.1:g.4836216_4836224del GRCh37
NC_000017.9:g.4776996_4777004del NCBI36
NG_008767.2:g.5627_5635del

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.317_325del (GP1BA) MANE Select ENSP00000329380.5:p.Gln106_Leu108del
ENST00000649830.1:c.-888+1417_-888+1425del (CHRNE) ENSP00000496907.1:n.-888+1417_-888+1425del
ENST00000329125.5:c.317_325del (GP1BA) ENSP00000329380.5:p.Gln106_Leu108del
ENST00000611961.1:c.317_325del (GP1BA) ENSP00000484439.1:p.Gln106_Leu108del
NM_000173.6:c.317_325del (GP1BA) NP_000164.5:p.Gln106_Leu108del
NM_000173.7:c.317_325del (GP1BA) MANE Select NP_000164.5:p.Gln106_Leu108del
Search 100 bp 5'
Search 100 bp 3'