Canonical Allele Identifier: CA1538211692

Gene: SLC45A2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951588_33951589delinsCA , CM000667.2:g.33951588_33951589delinsCA	GRCh38
NC_000005.9:g.33951693_33951694delinsCA , CM000667.1:g.33951693_33951694delinsCA	GRCh37
NC_000005.8:g.33987450_33987451delinsCA	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000296589.9:c.1121_1122delinsTG MANE Select	ENSP00000296589.4:p.Leu374=
ENST00000296589.8:c.1121_1122delinsTG	ENSP00000296589.4:p.Leu374=
ENST00000382102.7:c.1121_1122delinsTG	ENSP00000371534.3:p.Leu374=
ENST00000509381.1:c.*63_*64delinsTG	ENSP00000421100.1:n.*63_*64delinsTG
ENST00000510600.1:c.596_597delinsTG	ENSP00000424010.1:p.Leu199=
XM_011514051.1:c.719_720delinsTG	XP_011512353.1:p.Leu240=
XR_925620.1:n.1938_1939delinsTG
NM_016180.5:c.1121_1122delinsTG MANE Select	NP_057264.4:p.Leu374=
NM_001012509.4:c.1121_1122delinsTG	NP_001012527.2:p.Leu374=
NM_001297417.3:c.*63_*64delinsTG	NP_001284346.2:n.*63_*64delinsTG
NM_001297417.4:c.*63_*64delinsTG	NP_001284346.2:n.*63_*64delinsTG