Canonical Allele Identifier: CA2081142090

Gene: POMP

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659368_28659369delinsCG , CM000675.2:g.28659368_28659369delinsCG	GRCh38
NC_000013.10:g.29233505_29233506delinsCG , CM000675.1:g.29233505_29233506delinsCG	GRCh37
NC_000013.9:g.28131505_28131506delinsCG	NCBI36
NG_027550.1:g.5365_5366delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697661.1:c.-246+181_-246+182delinsCG	ENSP00000513386.1:n.-246+181_-246+182delinsCG
ENST00000697662.1:c.-282+181_-282+182delinsCG	ENSP00000513387.1:n.-282+181_-282+182delinsCG
ENST00000697716.1:c.-83+181_-83+182delinsCG	ENSP00000513414.1:n.-83+181_-83+182delinsCG
ENST00000697717.1:c.3+181_3+182delinsCG	ENSP00000513415.1:n.3+181_3+182delinsCG
ENST00000697718.1:c.3+181_3+182delinsCG	ENSP00000513416.1:n.3+181_3+182delinsCG
ENST00000380842.5:c.3+181_3+182delinsCG MANE Select	ENSP00000370222.4:n.3+181_3+182delinsCG
ENST00000380842.4:c.3+181_3+182delinsCG	ENSP00000370222.4:n.3+181_3+182delinsCG
ENST00000460403.1:n.84+181_84+182delinsCG
NM_015932.5:c.3+181_3+182delinsCG	NP_057016.1:n.3+181_3+182delinsCG
XR_941802.1:n.174_175delinsCG
NM_015932.6:c.3+181_3+182delinsCG MANE Select	NP_057016.1:n.3+181_3+182delinsCG