Canonical Allele Identifier: CA2081142002

Gene: POMP

Linked Data

• dbSNP Id: rs1884288221

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659230_28659242dup , CM000675.2:g.28659230_28659242dup	GRCh38
NC_000013.10:g.29233367_29233379dup , CM000675.1:g.29233367_29233379dup	GRCh37
NC_000013.9:g.28131367_28131379dup	NCBI36
NG_027550.1:g.5227_5239dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697661.1:c.-246+43_-246+55dup	ENSP00000513386.1:n.-246+43_-246+55dup
ENST00000697662.1:c.-282+43_-282+55dup	ENSP00000513387.1:n.-282+43_-282+55dup
ENST00000697716.1:c.-83+43_-83+55dup	ENSP00000513414.1:n.-83+43_-83+55dup
ENST00000697717.1:c.3+43_3+55dup	ENSP00000513415.1:n.3+43_3+55dup
ENST00000697718.1:c.3+43_3+55dup	ENSP00000513416.1:n.3+43_3+55dup
ENST00000380842.5:c.3+43_3+55dup MANE Select	ENSP00000370222.4:n.3+43_3+55dup
ENST00000380842.4:c.3+43_3+55dup	ENSP00000370222.4:n.3+43_3+55dup
ENST00000460403.1:n.84+43_84+55dup
NM_015932.5:c.3+43_3+55dup	NP_057016.1:n.3+43_3+55dup
XR_941802.1:n.36_48dup
NM_015932.6:c.3+43_3+55dup MANE Select	NP_057016.1:n.3+43_3+55dup