Canonical Allele Identifier: CA609145023

Gene: POMP

Linked Data

• dbSNP Id: rs1481457741
• gnomAD v2: 13-29233481-GT-G
• gnomAD v3: 13-28659344-GT-G
• gnomAD v4: 13-28659344-GT-G
• MyVariant Identifiers: chr13:g.29233482del (hg19) ; chr13:g.28659345del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659347del , CM000675.2:g.28659347del	GRCh38
NC_000013.10:g.29233484del , CM000675.1:g.29233484del	GRCh37
NC_000013.9:g.28131484del	NCBI36
NG_027550.1:g.5344del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697661.1:c.-246+160del	ENSP00000513386.1:n.-246+160del
ENST00000697662.1:c.-282+160del	ENSP00000513387.1:n.-282+160del
ENST00000697716.1:c.-83+160del	ENSP00000513414.1:n.-83+160del
ENST00000697717.1:c.3+160del	ENSP00000513415.1:n.3+160del
ENST00000697718.1:c.3+160del	ENSP00000513416.1:n.3+160del
ENST00000380842.5:c.3+160del MANE Select	ENSP00000370222.4:n.3+160del
ENST00000380842.4:c.3+160del	ENSP00000370222.4:n.3+160del
ENST00000460403.1:n.84+160del
NM_015932.5:c.3+160del	NP_057016.1:n.3+160del
XR_941802.1:n.153del
NM_015932.6:c.3+160del MANE Select	NP_057016.1:n.3+160del