Canonical Allele Identifier: CA2436817006

Gene: PHKA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72579761_72579763delinsCAT , CM000685.2:g.72579761_72579763delinsCAT	GRCh38
NC_000023.10:g.71799611_71799613delinsCAT , CM000685.1:g.71799611_71799613delinsCAT	GRCh37
NC_000023.9:g.71716336_71716338delinsCAT	NCBI36
NG_016599.1:g.139417_139419delinsATG
NG_016599.2:g.139419_139421delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373542.9:c.*1239_*1241delinsATG MANE Select	ENSP00000362643.4:n.*1239_*1241delinsATG
ENST00000339490.7:c.*1239_*1241delinsATG	ENSP00000342469.3:n.*1239_*1241delinsATG
ENST00000373542.8:c.*1239_*1241delinsATG	ENSP00000362643.4:n.*1239_*1241delinsATG
ENST00000373545.7:c.*1239_*1241delinsATG	ENSP00000362646.3:n.*1239_*1241delinsATG
ENST00000541944.5:c.*1239_*1241delinsATG	ENSP00000441251.1:n.*1239_*1241delinsATG
NM_001122670.1:c.*1239_*1241delinsATG	NP_001116142.1:n.*1239_*1241delinsATG
NM_001172436.1:c.*1239_*1241delinsATG	NP_001165907.1:n.*1239_*1241delinsATG
NM_002637.3:c.*1239_*1241delinsATG	NP_002628.2:n.*1239_*1241delinsATG
XM_006724661.2:c.*1239_*1241delinsATG	XP_006724724.1:n.*1239_*1241delinsATG
XR_001755696.1:n.5841_5843delinsATG
NM_002637.4:c.*1239_*1241delinsATG MANE Select	NP_002628.2:n.*1239_*1241delinsATG
NM_001122670.2:c.*1239_*1241delinsATG	NP_001116142.1:n.*1239_*1241delinsATG
NM_001172436.2:c.*1239_*1241delinsATG	NP_001165907.1:n.*1239_*1241delinsATG