Canonical Allele Identifier: CA2821775032

Gene: PHKA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72667458del , CM000685.2:g.72667458del	GRCh38
NC_000023.10:g.71887308del , CM000685.1:g.71887308del	GRCh37
NC_000023.9:g.71804033del	NCBI36
NG_016599.1:g.51723del
NG_016599.2:g.51725del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373542.9:c.635del MANE Select	ENSP00000362643.4:p.Leu212Ter
ENST00000339490.7:c.635del	ENSP00000342469.3:p.Leu212Ter
ENST00000373539.3:c.635del	ENSP00000362640.3:p.Leu212Ter
ENST00000373542.8:c.635del	ENSP00000362643.4:p.Leu212Ter
ENST00000373545.7:c.635del	ENSP00000362646.3:p.Leu212Ter
ENST00000541944.5:c.635del	ENSP00000441251.1:p.Leu212Ter
NM_001122670.1:c.635del	NP_001116142.1:p.Leu212Ter
NM_001172436.1:c.635del	NP_001165907.1:p.Leu212Ter
NM_002637.3:c.635del	NP_002628.2:p.Leu212Ter
XM_006724661.2:c.635del	XP_006724724.1:p.Leu212Ter
XR_001755696.1:n.778del
NM_002637.4:c.635del MANE Select	NP_002628.2:p.Leu212Ter
NM_001122670.2:c.635del	NP_001116142.1:p.Leu212Ter
NM_001172436.2:c.635del	NP_001165907.1:p.Leu212Ter