Canonical Allele Identifier: CA2622506843

Gene: POMP

Linked Data

• gnomAD v4: 13-28659296-CGTGGGGCTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659297_28659305del , CM000675.2:g.28659297_28659305del	GRCh38
NC_000013.10:g.29233434_29233442del , CM000675.1:g.29233434_29233442del	GRCh37
NC_000013.9:g.28131434_28131442del	NCBI36
NG_027550.1:g.5294_5302del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697661.1:c.-246+110_-246+118del	ENSP00000513386.1:n.-246+110_-246+118del
ENST00000697662.1:c.-282+110_-282+118del	ENSP00000513387.1:n.-282+110_-282+118del
ENST00000697716.1:c.-83+110_-83+118del	ENSP00000513414.1:n.-83+110_-83+118del
ENST00000697717.1:c.3+110_3+118del	ENSP00000513415.1:n.3+110_3+118del
ENST00000697718.1:c.3+110_3+118del	ENSP00000513416.1:n.3+110_3+118del
ENST00000380842.5:c.3+110_3+118del MANE Select	ENSP00000370222.4:n.3+110_3+118del
ENST00000380842.4:c.3+110_3+118del	ENSP00000370222.4:n.3+110_3+118del
ENST00000460403.1:n.84+110_84+118del
NM_015932.5:c.3+110_3+118del	NP_057016.1:n.3+110_3+118del
XR_941802.1:n.103_111del
NM_015932.6:c.3+110_3+118del MANE Select	NP_057016.1:n.3+110_3+118del