Canonical Allele Identifier: CA918433366
Gene: PLAA HGNC NCBI

Linked Data

dbSNP Id: rs1114167458

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.26946977dup , CM000671.2:g.26946977dup GRCh38
NC_000009.11:g.26946975dup , CM000671.1:g.26946975dup GRCh37
NC_000009.10:g.26936975dup NCBI36
NG_053083.1:g.4988dup

Transcript Alleles

HGVS Amino-acid change
ENST00000397292.8:c.70dup MANE Select ENSP00000380460.3:p.Leu24ProfsTer?
ENST00000397292.7:c.70dup ENSP00000380460.3:p.Leu24ProfsTer?
ENST00000520884.5:c.70dup ENSP00000429372.1:p.Leu24ProfsTer?
ENST00000523212.1:c.8dup
NM_001031689.2:c.70dup NP_001026859.1:p.Leu24ProfsTer?
XM_011518071.1:c.70dup XP_011516373.1:p.Leu24ProfsTer?
XM_011518072.1:c.70dup XP_011516374.1:p.Leu24ProfsTer?
NM_001321546.1:c.70dup NP_001308475.1:p.Leu24ProfsTer?
XM_011518072.3:c.70dup XP_011516374.1:p.Leu24ProfsTer?
XM_017015319.2:c.70dup XP_016870808.1:p.Leu24ProfsTer?
XR_001746420.2:n.292dup
NM_001031689.3:c.70dup MANE Select NP_001026859.1:p.Leu24ProfsTer?
NM_001321546.2:c.70dup NP_001308475.1:p.Leu24ProfsTer?