Canonical Allele Identifier: CA2622506832
Gene: POMP HGNC NCBI

Linked Data

gnomAD v4: 13-28659287-CGGCGGCAGCGTGG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659291_28659303del , CM000675.2:g.28659291_28659303del GRCh38
NC_000013.10:g.29233428_29233440del , CM000675.1:g.29233428_29233440del GRCh37
NC_000013.9:g.28131428_28131440del NCBI36
NG_027550.1:g.5288_5300del

Transcript Alleles

HGVS Amino-acid Change
ENST00000697661.1:c.-246+104_-246+116del ENSP00000513386.1:n.-246+104_-246+116del
ENST00000697662.1:c.-282+104_-282+116del ENSP00000513387.1:n.-282+104_-282+116del
ENST00000697716.1:c.-83+104_-83+116del ENSP00000513414.1:n.-83+104_-83+116del
ENST00000697717.1:c.3+104_3+116del ENSP00000513415.1:n.3+104_3+116del
ENST00000697718.1:c.3+104_3+116del ENSP00000513416.1:n.3+104_3+116del
ENST00000380842.5:c.3+104_3+116del MANE Select ENSP00000370222.4:n.3+104_3+116del
ENST00000380842.4:c.3+104_3+116del ENSP00000370222.4:n.3+104_3+116del
ENST00000460403.1:n.84+104_84+116del
NM_015932.5:c.3+104_3+116del NP_057016.1:n.3+104_3+116del
XR_941802.1:n.97_109del
NM_015932.6:c.3+104_3+116del MANE Select NP_057016.1:n.3+104_3+116del
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