Canonical Allele Identifier: CA2068078018

Gene: HPD

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121846949_121846952delinsAAGG , CM000674.2:g.121846949_121846952delinsAAGG	GRCh38
NC_000012.11:g.122284855_122284858delinsAAGG , CM000674.1:g.122284855_122284858delinsAAGG	GRCh37
NC_000012.10:g.120769238_120769241delinsAAGG	NCBI36
NG_016461.1:g.46660_46663delinsCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289004.8:c.760-19_760-16delinsCCTT MANE Select	ENSP00000289004.4:n.760-19_760-16delinsCCTT
ENST00000543163.5:c.643-19_643-16delinsCCTT	ENSP00000441677.1:n.643-19_643-16delinsCCTT
NM_001171993.1:c.643-19_643-16delinsCCTT	NP_001165464.1:n.643-19_643-16delinsCCTT
NM_002150.2:c.760-19_760-16delinsCCTT	NP_002141.1:n.760-19_760-16delinsCCTT
NM_002150.3:c.760-19_760-16delinsCCTT MANE Select	NP_002141.2:n.760-19_760-16delinsCCTT
NM_001171993.2:c.643-19_643-16delinsCCTT	NP_001165464.1:n.643-19_643-16delinsCCTT