Canonical Allele Identifier: CA658798126

Gene: POMP

Linked Data

• ClinVar Variation Id: 522801
• ClinVar RCV Id: RCV000663381 ; RCV003333089
• dbSNP Id: rs1555257073
• MyVariant Identifiers: chr13:g.29246545_29246546del (hg19) ; chr13:g.28672408_28672409del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28672408_28672409del , CM000675.2:g.28672408_28672409del	GRCh38
NC_000013.10:g.29246545_29246546del , CM000675.1:g.29246545_29246546del	GRCh37
NC_000013.9:g.28144545_28144546del	NCBI36
NG_027550.1:g.18405_18406del

Transcript Alleles

HGVS	Amino-acid change
ENST00000697661.1:c.151_152del	ENSP00000513386.1:p.Ile51TrpfsTer3
ENST00000697662.1:c.151_152del	ENSP00000513387.1:p.Ile51TrpfsTer3
ENST00000697663.1:c.151_152del	ENSP00000513388.1:p.Ile51TrpfsTer3
ENST00000697716.1:c.151_152del	ENSP00000513414.1:p.Ile51TrpfsTer3
ENST00000697717.1:c.*160_*161del	ENSP00000513415.1:n.*160_*161del
ENST00000697718.1:c.334_335del	ENSP00000513416.1:p.Ile112TrpfsTer3
ENST00000697719.1:c.151_152del	ENSP00000513417.1:p.Ile51TrpfsTer3
ENST00000697720.1:c.151_152del	ENSP00000513418.1:p.Ile51TrpfsTer3
ENST00000697721.1:c.151_152del	ENSP00000513419.1:p.Ile51TrpfsTer3
ENST00000697722.1:n.1522_1523del
ENST00000380842.5:c.334_335del MANE Select	ENSP00000370222.4:p.Ile112TrpfsTer3
ENST00000380842.4:c.334_335del	ENSP00000370222.4:p.Ile112TrpfsTer3
ENST00000460403.1:n.513_514del
NM_015932.5:c.334_335del	NP_057016.1:p.Ile112TrpfsTer3
NM_015932.6:c.334_335del MANE Select	NP_057016.1:p.Ile112TrpfsTer3