Canonical Allele Identifier: CA2622506854

Gene: POMP

Linked Data

• gnomAD v4: 13-28659307-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659307_28659308insA , CM000675.2:g.28659307_28659308insA	GRCh38
NC_000013.10:g.29233444_29233445insA , CM000675.1:g.29233444_29233445insA	GRCh37
NC_000013.9:g.28131444_28131445insA	NCBI36
NG_027550.1:g.5304_5305insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697661.1:c.-246+120_-246+121insA	ENSP00000513386.1:n.-246+120_-246+121insA
ENST00000697662.1:c.-282+120_-282+121insA	ENSP00000513387.1:n.-282+120_-282+121insA
ENST00000697716.1:c.-83+120_-83+121insA	ENSP00000513414.1:n.-83+120_-83+121insA
ENST00000697717.1:c.3+120_3+121insA	ENSP00000513415.1:n.3+120_3+121insA
ENST00000697718.1:c.3+120_3+121insA	ENSP00000513416.1:n.3+120_3+121insA
ENST00000380842.5:c.3+120_3+121insA MANE Select	ENSP00000370222.4:n.3+120_3+121insA
ENST00000380842.4:c.3+120_3+121insA	ENSP00000370222.4:n.3+120_3+121insA
ENST00000460403.1:n.84+120_84+121insA
NM_015932.5:c.3+120_3+121insA	NP_057016.1:n.3+120_3+121insA
XR_941802.1:n.113_114insA
NM_015932.6:c.3+120_3+121insA MANE Select	NP_057016.1:n.3+120_3+121insA