Canonical Allele Identifier: CA2622506823

Gene: POMP

Linked Data

• gnomAD v4: 13-28659275-C-CGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659278_28659280dup , CM000675.2:g.28659278_28659280dup	GRCh38
NC_000013.10:g.29233415_29233417dup , CM000675.1:g.29233415_29233417dup	GRCh37
NC_000013.9:g.28131415_28131417dup	NCBI36
NG_027550.1:g.5275_5277dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697661.1:c.-246+91_-246+93dup	ENSP00000513386.1:n.-246+91_-246+93dup
ENST00000697662.1:c.-282+91_-282+93dup	ENSP00000513387.1:n.-282+91_-282+93dup
ENST00000697716.1:c.-83+91_-83+93dup	ENSP00000513414.1:n.-83+91_-83+93dup
ENST00000697717.1:c.3+91_3+93dup	ENSP00000513415.1:n.3+91_3+93dup
ENST00000697718.1:c.3+91_3+93dup	ENSP00000513416.1:n.3+91_3+93dup
ENST00000380842.5:c.3+91_3+93dup MANE Select	ENSP00000370222.4:n.3+91_3+93dup
ENST00000380842.4:c.3+91_3+93dup	ENSP00000370222.4:n.3+91_3+93dup
ENST00000460403.1:n.84+91_84+93dup
NM_015932.5:c.3+91_3+93dup	NP_057016.1:n.3+91_3+93dup
XR_941802.1:n.84_86dup
NM_015932.6:c.3+91_3+93dup MANE Select	NP_057016.1:n.3+91_3+93dup