Canonical Allele Identifier: CA645559316

Gene: SLC45A2

Linked Data

• COSMIC: COSM256118

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951626_33951628dup , CM000667.2:g.33951626_33951628dup	GRCh38
NC_000005.9:g.33951731_33951733dup , CM000667.1:g.33951731_33951733dup	GRCh37
NC_000005.8:g.33987488_33987490dup	NCBI36
NG_011691.2:g.38050_38052dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1084_1086dup MANE Select	ENSP00000296589.4:p.Ile362_Tyr363insIle
ENST00000296589.8:c.1084_1086dup	ENSP00000296589.4:p.Ile362_Tyr363insIle
ENST00000382102.7:c.1084_1086dup	ENSP00000371534.3:p.Ile362_Tyr363insIle
ENST00000509381.1:c.*26_*28dup	ENSP00000421100.1:n.*26_*28dup
ENST00000510600.1:c.559_561dup	ENSP00000424010.1:p.Ile187_Tyr188insIle
NM_001012509.3:c.1084_1086dup	NP_001012527.1:p.Ile362_Tyr363insIle
NM_001297417.2:c.*26_*28dup	NP_001284346.2:n.*26_*28dup
NM_016180.4:c.1084_1086dup	NP_057264.3:p.Ile362_Tyr363insIle
XM_011514051.1:c.682_684dup	XP_011512353.1:p.Ile228_Tyr229insIle
XR_925620.1:n.1901_1903dup
NM_016180.5:c.1084_1086dup MANE Select	NP_057264.4:p.Ile362_Tyr363insIle
NM_001012509.4:c.1084_1086dup	NP_001012527.2:p.Ile362_Tyr363insIle
NM_001297417.3:c.*26_*28dup	NP_001284346.2:n.*26_*28dup
NM_001297417.4:c.*26_*28dup	NP_001284346.2:n.*26_*28dup