Canonical Allele Identifier: CA2081142140
Gene: POMP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659442A= , CM000675.2:g.28659442A= GRCh38
NC_000013.10:g.29233579A= , CM000675.1:g.29233579A= GRCh37
NC_000013.9:g.28131579A= NCBI36
NG_027550.1:g.5439A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000697661.1:c.-246+255A= ENSP00000513386.1:n.-246+255A=
ENST00000697662.1:c.-282+255A= ENSP00000513387.1:n.-282+255A=
ENST00000697716.1:c.-83+255A= ENSP00000513414.1:n.-83+255A=
ENST00000697717.1:c.3+255A= ENSP00000513415.1:n.3+255A=
ENST00000697718.1:c.3+255A= ENSP00000513416.1:n.3+255A=
ENST00000697719.1:c.-297A= ENSP00000513417.1:n.-297A=
ENST00000697720.1:c.-455A= ENSP00000513418.1:n.-455A=
ENST00000380842.5:c.3+255A= MANE Select ENSP00000370222.4:n.3+255A=
ENST00000380842.4:c.3+255A= ENSP00000370222.4:n.3+255A=
ENST00000460403.1:n.84+255A=
NM_015932.5:c.3+255A= NP_057016.1:n.3+255A=
XR_941802.1:n.248A=
NM_015932.6:c.3+255A= MANE Select NP_057016.1:n.3+255A=