Canonical Allele Identifier: CA2436843944

Gene: PHKA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72667293_72667300delinsTATCCTTA , CM000685.2:g.72667293_72667300delinsTATCCTTA	GRCh38
NC_000023.10:g.71887143_71887150delinsTATCCTTA , CM000685.1:g.71887143_71887150delinsTATCCTTA	GRCh37
NC_000023.9:g.71803868_71803875delinsTATCCTTA	NCBI36
NG_016599.1:g.51880_51887delinsTAAGGATA
NG_016599.2:g.51882_51889delinsTAAGGATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373542.9:c.717+75_717+82delinsTAAGGATA MANE Select	ENSP00000362643.4:n.717+75_717+82delinsTAAGGATA
ENST00000339490.7:c.717+75_717+82delinsTAAGGATA	ENSP00000342469.3:n.717+75_717+82delinsTAAGGATA
ENST00000373539.3:c.717+75_717+82delinsTAAGGATA	ENSP00000362640.3:n.717+75_717+82delinsTAAGGATA
ENST00000373542.8:c.717+75_717+82delinsTAAGGATA	ENSP00000362643.4:n.717+75_717+82delinsTAAGGATA
ENST00000373545.7:c.717+75_717+82delinsTAAGGATA	ENSP00000362646.3:n.717+75_717+82delinsTAAGGATA
ENST00000541944.5:c.717+75_717+82delinsTAAGGATA	ENSP00000441251.1:n.717+75_717+82delinsTAAGGATA
NM_001122670.1:c.717+75_717+82delinsTAAGGATA	NP_001116142.1:n.717+75_717+82delinsTAAGGATA
NM_001172436.1:c.717+75_717+82delinsTAAGGATA	NP_001165907.1:n.717+75_717+82delinsTAAGGATA
NM_002637.3:c.717+75_717+82delinsTAAGGATA	NP_002628.2:n.717+75_717+82delinsTAAGGATA
XM_006724661.2:c.717+75_717+82delinsTAAGGATA	XP_006724724.1:n.717+75_717+82delinsTAAGGATA
XR_001755696.1:n.860+75_860+82delinsTAAGGATA
NM_002637.4:c.717+75_717+82delinsTAAGGATA MANE Select	NP_002628.2:n.717+75_717+82delinsTAAGGATA
NM_001122670.2:c.717+75_717+82delinsTAAGGATA	NP_001116142.1:n.717+75_717+82delinsTAAGGATA
NM_001172436.2:c.717+75_717+82delinsTAAGGATA	NP_001165907.1:n.717+75_717+82delinsTAAGGATA