Canonical Allele Identifier: CA2081142023

Gene: POMP

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659263C= , CM000675.2:g.28659263C=	GRCh38
NC_000013.10:g.29233400C= , CM000675.1:g.29233400C=	GRCh37
NC_000013.9:g.28131400C=	NCBI36
NG_027550.1:g.5260C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697661.1:c.-246+76C=	ENSP00000513386.1:n.-246+76C=
ENST00000697662.1:c.-282+76C=	ENSP00000513387.1:n.-282+76C=
ENST00000697716.1:c.-83+76C=	ENSP00000513414.1:n.-83+76C=
ENST00000697717.1:c.3+76C=	ENSP00000513415.1:n.3+76C=
ENST00000697718.1:c.3+76C=	ENSP00000513416.1:n.3+76C=
ENST00000380842.5:c.3+76C= MANE Select	ENSP00000370222.4:n.3+76C=
ENST00000380842.4:c.3+76C=	ENSP00000370222.4:n.3+76C=
ENST00000460403.1:n.84+76C=
NM_015932.5:c.3+76C=	NP_057016.1:n.3+76C=
XR_941802.1:n.69C=
NM_015932.6:c.3+76C= MANE Select	NP_057016.1:n.3+76C=