Canonical Allele Identifier: CA624856151

Linked Data

dbSNP Id: rs1970381241

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933886_4933897del , CM000679.2:g.4933886_4933897del GRCh38
NC_000017.10:g.4837181_4837192del , CM000679.1:g.4837181_4837192del GRCh37
NG_008767.2:g.6592_6603del

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1282_1293del (GP1BA) MANE Select ENSP00000329380.5:p.Ser428_Ala431del
ENST00000649830.1:c.-888+447_-888+458del (CHRNE) ENSP00000496907.1:n.-888+447_-888+458del
ENST00000329125.5:c.1282_1293del (GP1BA) ENSP00000329380.5:p.Ser428_Ala431del
ENST00000611961.1:c.1272+10_1272+21del (GP1BA) ENSP00000484439.1:n.1272+10_1272+21del
NM_000173.6:c.1282_1293del (GP1BA) NP_000164.5:p.Ser428_Ala431del
NM_000173.7:c.1282_1293del (GP1BA) MANE Select NP_000164.5:p.Ser428_Ala431del