Canonical Allele Identifier: CA2081142156

Gene: POMP

Linked Data

• dbSNP Id: rs1884295976

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659480_28659483del , CM000675.2:g.28659480_28659483del	GRCh38
NC_000013.10:g.29233617_29233620del , CM000675.1:g.29233617_29233620del	GRCh37
NC_000013.9:g.28131617_28131620del	NCBI36
NG_027550.1:g.5477_5480del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697661.1:c.-246+293_-246+296del	ENSP00000513386.1:n.-246+293_-246+296del
ENST00000697662.1:c.-282+293_-282+296del	ENSP00000513387.1:n.-282+293_-282+296del
ENST00000697716.1:c.-83+293_-83+296del	ENSP00000513414.1:n.-83+293_-83+296del
ENST00000697717.1:c.3+293_3+296del	ENSP00000513415.1:n.3+293_3+296del
ENST00000697718.1:c.3+293_3+296del	ENSP00000513416.1:n.3+293_3+296del
ENST00000697719.1:c.-259_-256del	ENSP00000513417.1:n.-259_-256del
ENST00000697720.1:c.-417_-414del	ENSP00000513418.1:n.-417_-414del
ENST00000380842.5:c.3+293_3+296del MANE Select	ENSP00000370222.4:n.3+293_3+296del
ENST00000380842.4:c.3+293_3+296del	ENSP00000370222.4:n.3+293_3+296del
ENST00000460403.1:n.84+293_84+296del
NM_015932.5:c.3+293_3+296del	NP_057016.1:n.3+293_3+296del
XR_941802.1:n.286_289del
NM_015932.6:c.3+293_3+296del MANE Select	NP_057016.1:n.3+293_3+296del