Canonical Allele Identifier: CA2695204189

Gene: SLC45A2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33984392del , CM000667.2:g.33984392del	GRCh38
NC_000005.9:g.33984497del , CM000667.1:g.33984497del	GRCh37
NC_000005.8:g.34020254del	NCBI36
NG_011691.2:g.5284del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.192del MANE Select	ENSP00000296589.4:p.Leu65CysfsTer?
ENST00000296589.8:c.192del	ENSP00000296589.4:p.Leu65CysfsTer?
ENST00000382102.7:c.192del	ENSP00000371534.3:p.Leu65CysfsTer?
ENST00000505056.1:n.171del
ENST00000509381.1:c.192del	ENSP00000421100.1:p.Leu65CysfsTer?
NM_001012509.3:c.192del	NP_001012527.1:p.Leu65CysfsTer?
NM_001297417.2:c.192del	NP_001284346.2:p.Leu65CysfsTer?
NM_016180.4:c.192del	NP_057264.3:p.Leu65CysfsTer?
XM_011514052.1:c.192del	XP_011512354.1:p.Leu65CysfsTer?
XR_925620.1:n.753del
NM_016180.5:c.192del MANE Select	NP_057264.4:p.Leu65CysfsTer?
NM_001012509.4:c.192del	NP_001012527.2:p.Leu65CysfsTer?
NM_001297417.3:c.192del	NP_001284346.2:p.Leu65CysfsTer?
NM_001297417.4:c.192del	NP_001284346.2:p.Leu65CysfsTer?