Canonical Allele Identifier: CA2081142130

Gene: POMP

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659428_28659429delinsGT , CM000675.2:g.28659428_28659429delinsGT	GRCh38
NC_000013.10:g.29233565_29233566delinsGT , CM000675.1:g.29233565_29233566delinsGT	GRCh37
NC_000013.9:g.28131565_28131566delinsGT	NCBI36
NG_027550.1:g.5425_5426delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697661.1:c.-246+241_-246+242delinsGT	ENSP00000513386.1:n.-246+241_-246+242delinsGT
ENST00000697662.1:c.-282+241_-282+242delinsGT	ENSP00000513387.1:n.-282+241_-282+242delinsGT
ENST00000697716.1:c.-83+241_-83+242delinsGT	ENSP00000513414.1:n.-83+241_-83+242delinsGT
ENST00000697717.1:c.3+241_3+242delinsGT	ENSP00000513415.1:n.3+241_3+242delinsGT
ENST00000697718.1:c.3+241_3+242delinsGT	ENSP00000513416.1:n.3+241_3+242delinsGT
ENST00000697719.1:c.-311_-310delinsGT	ENSP00000513417.1:n.-311_-310delinsGT
ENST00000697720.1:c.-469_-468delinsGT	ENSP00000513418.1:n.-469_-468delinsGT
ENST00000380842.5:c.3+241_3+242delinsGT MANE Select	ENSP00000370222.4:n.3+241_3+242delinsGT
ENST00000380842.4:c.3+241_3+242delinsGT	ENSP00000370222.4:n.3+241_3+242delinsGT
ENST00000460403.1:n.84+241_84+242delinsGT
NM_015932.5:c.3+241_3+242delinsGT	NP_057016.1:n.3+241_3+242delinsGT
XR_941802.1:n.234_235delinsGT
NM_015932.6:c.3+241_3+242delinsGT MANE Select	NP_057016.1:n.3+241_3+242delinsGT