Canonical Allele Identifier: CA2622506855

Gene: POMP

Linked Data

• gnomAD v4: 13-28659307-G-GGCCGGCCTCAGGCGCCATAATCTGTCGA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659309_28659336dup , CM000675.2:g.28659309_28659336dup	GRCh38
NC_000013.10:g.29233446_29233473dup , CM000675.1:g.29233446_29233473dup	GRCh37
NC_000013.9:g.28131446_28131473dup	NCBI36
NG_027550.1:g.5306_5333dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697661.1:c.-246+122_-246+149dup	ENSP00000513386.1:n.-246+122_-246+149dup
ENST00000697662.1:c.-282+122_-282+149dup	ENSP00000513387.1:n.-282+122_-282+149dup
ENST00000697716.1:c.-83+122_-83+149dup	ENSP00000513414.1:n.-83+122_-83+149dup
ENST00000697717.1:c.3+122_3+149dup	ENSP00000513415.1:n.3+122_3+149dup
ENST00000697718.1:c.3+122_3+149dup	ENSP00000513416.1:n.3+122_3+149dup
ENST00000380842.5:c.3+122_3+149dup MANE Select	ENSP00000370222.4:n.3+122_3+149dup
ENST00000380842.4:c.3+122_3+149dup	ENSP00000370222.4:n.3+122_3+149dup
ENST00000460403.1:n.84+122_84+149dup
NM_015932.5:c.3+122_3+149dup	NP_057016.1:n.3+122_3+149dup
XR_941802.1:n.115_142dup
NM_015932.6:c.3+122_3+149dup MANE Select	NP_057016.1:n.3+122_3+149dup