Canonical Allele Identifier: CA2068078015

Gene: HPD

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121846948_121846951delinsCAAG , CM000674.2:g.121846948_121846951delinsCAAG	GRCh38
NC_000012.11:g.122284854_122284857delinsCAAG , CM000674.1:g.122284854_122284857delinsCAAG	GRCh37
NC_000012.10:g.120769237_120769240delinsCAAG	NCBI36
NG_016461.1:g.46661_46664delinsCTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289004.8:c.760-18_760-15delinsCTTG MANE Select	ENSP00000289004.4:n.760-18_760-15delinsCTTG
ENST00000543163.5:c.643-18_643-15delinsCTTG	ENSP00000441677.1:n.643-18_643-15delinsCTTG
NM_001171993.1:c.643-18_643-15delinsCTTG	NP_001165464.1:n.643-18_643-15delinsCTTG
NM_002150.2:c.760-18_760-15delinsCTTG	NP_002141.1:n.760-18_760-15delinsCTTG
NM_002150.3:c.760-18_760-15delinsCTTG MANE Select	NP_002141.2:n.760-18_760-15delinsCTTG
NM_001171993.2:c.643-18_643-15delinsCTTG	NP_001165464.1:n.643-18_643-15delinsCTTG