Canonical Allele Identifier: CA387802040

Gene: POMP

Linked Data

• dbSNP Id: rs1005299683
• gnomAD v4: 13-28659278-TGGC-T
• MyVariant Identifiers: chr13:g.29233416_29233418del (hg19) ; chr13:g.28659280_28659282del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659291_28659293del , CM000675.2:g.28659291_28659293del	GRCh38
NC_000013.10:g.29233428_29233430del , CM000675.1:g.29233428_29233430del	GRCh37
NC_000013.9:g.28131428_28131430del	NCBI36
NG_027550.1:g.5288_5290del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697661.1:c.-246+104_-246+106del	ENSP00000513386.1:n.-246+104_-246+106del
ENST00000697662.1:c.-282+104_-282+106del	ENSP00000513387.1:n.-282+104_-282+106del
ENST00000697716.1:c.-83+104_-83+106del	ENSP00000513414.1:n.-83+104_-83+106del
ENST00000697717.1:c.3+104_3+106del	ENSP00000513415.1:n.3+104_3+106del
ENST00000697718.1:c.3+104_3+106del	ENSP00000513416.1:n.3+104_3+106del
ENST00000380842.5:c.3+104_3+106del MANE Select	ENSP00000370222.4:n.3+104_3+106del
ENST00000380842.4:c.3+104_3+106del	ENSP00000370222.4:n.3+104_3+106del
ENST00000460403.1:n.84+104_84+106del
NM_015932.5:c.3+104_3+106del	NP_057016.1:n.3+104_3+106del
XR_941802.1:n.97_99del
NM_015932.6:c.3+104_3+106del MANE Select	NP_057016.1:n.3+104_3+106del