Canonical Allele Identifier: CA2508479091

Gene: SLC45A2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33984224_33984232del , CM000667.2:g.33984224_33984232del	GRCh38
NC_000005.9:g.33984329_33984337del , CM000667.1:g.33984329_33984337del	GRCh37
NC_000005.8:g.34020086_34020094del	NCBI36
NG_011691.2:g.5444_5452del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.352_360del MANE Select	ENSP00000296589.4:p.Ala118_Tyr120del
ENST00000296589.8:c.352_360del	ENSP00000296589.4:p.Ala118_Tyr120del
ENST00000382102.7:c.352_360del	ENSP00000371534.3:p.Ala118_Tyr120del
ENST00000505056.1:n.331_339del
ENST00000509381.1:c.352_360del	ENSP00000421100.1:p.Ala118_Tyr120del
ENST00000510600.1:c.4_12del	ENSP00000424010.1:p.Ala2_Tyr4del
NM_001012509.3:c.352_360del	NP_001012527.1:p.Ala118_Tyr120del
NM_001297417.2:c.352_360del	NP_001284346.2:p.Ala118_Tyr120del
NM_016180.4:c.352_360del	NP_057264.3:p.Ala118_Tyr120del
XM_011514052.1:c.352_360del	XP_011512354.1:p.Ala118_Tyr120del
XR_925620.1:n.913_921del
NM_016180.5:c.352_360del MANE Select	NP_057264.4:p.Ala118_Tyr120del
NM_001012509.4:c.352_360del	NP_001012527.2:p.Ala118_Tyr120del
NM_001297417.3:c.352_360del	NP_001284346.2:p.Ala118_Tyr120del
NM_001297417.4:c.352_360del	NP_001284346.2:p.Ala118_Tyr120del