Canonical Allele Identifier: CA2081142075

Gene: POMP

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659344_28659345delinsGT , CM000675.2:g.28659344_28659345delinsGT	GRCh38
NC_000013.10:g.29233481_29233482delinsGT , CM000675.1:g.29233481_29233482delinsGT	GRCh37
NC_000013.9:g.28131481_28131482delinsGT	NCBI36
NG_027550.1:g.5341_5342delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697661.1:c.-246+157_-246+158delinsGT	ENSP00000513386.1:n.-246+157_-246+158delinsGT
ENST00000697662.1:c.-282+157_-282+158delinsGT	ENSP00000513387.1:n.-282+157_-282+158delinsGT
ENST00000697716.1:c.-83+157_-83+158delinsGT	ENSP00000513414.1:n.-83+157_-83+158delinsGT
ENST00000697717.1:c.3+157_3+158delinsGT	ENSP00000513415.1:n.3+157_3+158delinsGT
ENST00000697718.1:c.3+157_3+158delinsGT	ENSP00000513416.1:n.3+157_3+158delinsGT
ENST00000380842.5:c.3+157_3+158delinsGT MANE Select	ENSP00000370222.4:n.3+157_3+158delinsGT
ENST00000380842.4:c.3+157_3+158delinsGT	ENSP00000370222.4:n.3+157_3+158delinsGT
ENST00000460403.1:n.84+157_84+158delinsGT
NM_015932.5:c.3+157_3+158delinsGT	NP_057016.1:n.3+157_3+158delinsGT
XR_941802.1:n.150_151delinsGT
NM_015932.6:c.3+157_3+158delinsGT MANE Select	NP_057016.1:n.3+157_3+158delinsGT