Canonical Allele Identifier: CA2081142065

Gene: POMP

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659328_28659329delinsTC , CM000675.2:g.28659328_28659329delinsTC	GRCh38
NC_000013.10:g.29233465_29233466delinsTC , CM000675.1:g.29233465_29233466delinsTC	GRCh37
NC_000013.9:g.28131465_28131466delinsTC	NCBI36
NG_027550.1:g.5325_5326delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697661.1:c.-246+141_-246+142delinsTC	ENSP00000513386.1:n.-246+141_-246+142delinsTC
ENST00000697662.1:c.-282+141_-282+142delinsTC	ENSP00000513387.1:n.-282+141_-282+142delinsTC
ENST00000697716.1:c.-83+141_-83+142delinsTC	ENSP00000513414.1:n.-83+141_-83+142delinsTC
ENST00000697717.1:c.3+141_3+142delinsTC	ENSP00000513415.1:n.3+141_3+142delinsTC
ENST00000697718.1:c.3+141_3+142delinsTC	ENSP00000513416.1:n.3+141_3+142delinsTC
ENST00000380842.5:c.3+141_3+142delinsTC MANE Select	ENSP00000370222.4:n.3+141_3+142delinsTC
ENST00000380842.4:c.3+141_3+142delinsTC	ENSP00000370222.4:n.3+141_3+142delinsTC
ENST00000460403.1:n.84+141_84+142delinsTC
NM_015932.5:c.3+141_3+142delinsTC	NP_057016.1:n.3+141_3+142delinsTC
XR_941802.1:n.134_135delinsTC
NM_015932.6:c.3+141_3+142delinsTC MANE Select	NP_057016.1:n.3+141_3+142delinsTC