Canonical Allele Identifier: CA2340115840
Gene: PPP1R15A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48875910_48875925delinsCACACCTTCCCGCTCG , CM000681.2:g.48875910_48875925delinsCACACCTTCCCGCTCG GRCh38
NC_000019.9:g.49379167_49379182delinsCACACCTTCCCGCTCG , CM000681.1:g.49379167_49379182delinsCACACCTTCCCGCTCG GRCh37
NC_000019.8:g.54070979_54070994delinsCACACCTTCCCGCTCG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000600406.2:c.*817_*832delinsCACACCTTCCCGCTCG ENSP00000469239.2:n.*817_*832delinsCACACCTTCCCGCTCG
ENST00000704026.1:c.1677_1692delinsCACACCTTCCCGCTCG ENSP00000515636.1:p.Ala559=
ENST00000704027.1:c.2010_2025delinsCACACCTTCCCGCTCG ENSP00000515637.1:p.Ala670=
ENST00000200453.6:c.1962_1977delinsCACACCTTCCCGCTCG MANE Select ENSP00000200453.4:p.Ala654=
ENST00000200453.5:c.1962_1977delinsCACACCTTCCCGCTCG ENSP00000200453.4:p.Ala654=
ENST00000600406.1:c.1593_1608delinsCACACCTTCCCGCTCG
NM_014330.3:c.1962_1977delinsCACACCTTCCCGCTCG NP_055145.3:p.Ala654=
NM_014330.5:c.1962_1977delinsCACACCTTCCCGCTCG MANE Select NP_055145.3:p.Ala654=