Canonical Allele Identifier: CA2081142155

Gene: POMP

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659476_28659480delinsCCTTA , CM000675.2:g.28659476_28659480delinsCCTTA	GRCh38
NC_000013.10:g.29233613_29233617delinsCCTTA , CM000675.1:g.29233613_29233617delinsCCTTA	GRCh37
NC_000013.9:g.28131613_28131617delinsCCTTA	NCBI36
NG_027550.1:g.5473_5477delinsCCTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697661.1:c.-246+289_-246+293delinsCCTTA	ENSP00000513386.1:n.-246+289_-246+293delinsCCTTA
ENST00000697662.1:c.-282+289_-282+293delinsCCTTA	ENSP00000513387.1:n.-282+289_-282+293delinsCCTTA
ENST00000697716.1:c.-83+289_-83+293delinsCCTTA	ENSP00000513414.1:n.-83+289_-83+293delinsCCTTA
ENST00000697717.1:c.3+289_3+293delinsCCTTA	ENSP00000513415.1:n.3+289_3+293delinsCCTTA
ENST00000697718.1:c.3+289_3+293delinsCCTTA	ENSP00000513416.1:n.3+289_3+293delinsCCTTA
ENST00000697719.1:c.-263_-259delinsCCTTA	ENSP00000513417.1:n.-263_-259delinsCCTTA
ENST00000697720.1:c.-421_-417delinsCCTTA	ENSP00000513418.1:n.-421_-417delinsCCTTA
ENST00000380842.5:c.3+289_3+293delinsCCTTA MANE Select	ENSP00000370222.4:n.3+289_3+293delinsCCTTA
ENST00000380842.4:c.3+289_3+293delinsCCTTA	ENSP00000370222.4:n.3+289_3+293delinsCCTTA
ENST00000460403.1:n.84+289_84+293delinsCCTTA
NM_015932.5:c.3+289_3+293delinsCCTTA	NP_057016.1:n.3+289_3+293delinsCCTTA
XR_941802.1:n.282_286delinsCCTTA
NM_015932.6:c.3+289_3+293delinsCCTTA MANE Select	NP_057016.1:n.3+289_3+293delinsCCTTA