Canonical Allele Identifier: CA697097017

Gene: POMP

Linked Data

• dbSNP Id: rs1342206527
• MyVariant Identifiers: chr13:g.29233566del (hg19) ; chr13:g.28659429del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28659431del , CM000675.2:g.28659431del	GRCh38
NC_000013.10:g.29233568del , CM000675.1:g.29233568del	GRCh37
NC_000013.9:g.28131568del	NCBI36
NG_027550.1:g.5428del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697661.1:c.-246+244del	ENSP00000513386.1:n.-246+244del
ENST00000697662.1:c.-282+244del	ENSP00000513387.1:n.-282+244del
ENST00000697716.1:c.-83+244del	ENSP00000513414.1:n.-83+244del
ENST00000697717.1:c.3+244del	ENSP00000513415.1:n.3+244del
ENST00000697718.1:c.3+244del	ENSP00000513416.1:n.3+244del
ENST00000697719.1:c.-308del	ENSP00000513417.1:n.-308del
ENST00000697720.1:c.-466del	ENSP00000513418.1:n.-466del
ENST00000380842.5:c.3+244del MANE Select	ENSP00000370222.4:n.3+244del
ENST00000380842.4:c.3+244del	ENSP00000370222.4:n.3+244del
ENST00000460403.1:n.84+244del
NM_015932.5:c.3+244del	NP_057016.1:n.3+244del
XR_941802.1:n.237del
NM_015932.6:c.3+244del MANE Select	NP_057016.1:n.3+244del