Canonical Allele Identifier: CA2622506829
Gene: POMP HGNC NCBI

Linked Data

gnomAD v4: 13-28659285-G-GGCGGCGGCA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659289_28659297dup , CM000675.2:g.28659289_28659297dup GRCh38
NC_000013.10:g.29233426_29233434dup , CM000675.1:g.29233426_29233434dup GRCh37
NC_000013.9:g.28131426_28131434dup NCBI36
NG_027550.1:g.5286_5294dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000697661.1:c.-246+102_-246+110dup ENSP00000513386.1:n.-246+102_-246+110dup
ENST00000697662.1:c.-282+102_-282+110dup ENSP00000513387.1:n.-282+102_-282+110dup
ENST00000697716.1:c.-83+102_-83+110dup ENSP00000513414.1:n.-83+102_-83+110dup
ENST00000697717.1:c.3+102_3+110dup ENSP00000513415.1:n.3+102_3+110dup
ENST00000697718.1:c.3+102_3+110dup ENSP00000513416.1:n.3+102_3+110dup
ENST00000380842.5:c.3+102_3+110dup MANE Select ENSP00000370222.4:n.3+102_3+110dup
ENST00000380842.4:c.3+102_3+110dup ENSP00000370222.4:n.3+102_3+110dup
ENST00000460403.1:n.84+102_84+110dup
NM_015932.5:c.3+102_3+110dup NP_057016.1:n.3+102_3+110dup
XR_941802.1:n.95_103dup
NM_015932.6:c.3+102_3+110dup MANE Select NP_057016.1:n.3+102_3+110dup
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