Canonical Allele Identifier: CA2081142127

Gene: POMP

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659421T= , CM000675.2:g.28659421T=	GRCh38
NC_000013.10:g.29233558T= , CM000675.1:g.29233558T=	GRCh37
NC_000013.9:g.28131558T=	NCBI36
NG_027550.1:g.5418T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697661.1:c.-246+234T=	ENSP00000513386.1:n.-246+234T=
ENST00000697662.1:c.-282+234T=	ENSP00000513387.1:n.-282+234T=
ENST00000697716.1:c.-83+234T=	ENSP00000513414.1:n.-83+234T=
ENST00000697717.1:c.3+234T=	ENSP00000513415.1:n.3+234T=
ENST00000697718.1:c.3+234T=	ENSP00000513416.1:n.3+234T=
ENST00000697719.1:c.-318T=	ENSP00000513417.1:n.-318T=
ENST00000697720.1:c.-476T=	ENSP00000513418.1:n.-476T=
ENST00000380842.5:c.3+234T= MANE Select	ENSP00000370222.4:n.3+234T=
ENST00000380842.4:c.3+234T=	ENSP00000370222.4:n.3+234T=
ENST00000460403.1:n.84+234T=
NM_015932.5:c.3+234T=	NP_057016.1:n.3+234T=
XR_941802.1:n.227T=
NM_015932.6:c.3+234T= MANE Select	NP_057016.1:n.3+234T=