Canonical Allele Identifier: CA3225667

Gene: SLC45A2

Linked Data

• dbSNP Id: rs764383476
• ExAC: 5:33963748 AAG / A
• gnomAD v2: 5-33963748-AAG-A
• gnomAD v3: 5-33963643-AAG-A
• gnomAD v4: 5-33963643-AAG-A
• MyVariant Identifiers: chr5:g.33963749_33963750del (hg19) ; chr5:g.33963644_33963645del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963646_33963647del , CM000667.2:g.33963646_33963647del	GRCh38
NC_000005.9:g.33963751_33963752del , CM000667.1:g.33963751_33963752del	GRCh37
NC_000005.8:g.33999508_33999509del	NCBI36
NG_011691.2:g.26031_26032del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.888+46_888+47del MANE Select	ENSP00000296589.4:n.888+46_888+47del
ENST00000296589.8:c.888+46_888+47del	ENSP00000296589.4:n.888+46_888+47del
ENST00000382102.7:c.888+46_888+47del	ENSP00000371534.3:n.888+46_888+47del
ENST00000505056.1:n.736_737del
ENST00000509381.1:c.563-9141_563-9140del	ENSP00000421100.1:n.563-9141_563-9140del
ENST00000510600.1:c.363+46_363+47del	ENSP00000424010.1:n.363+46_363+47del
NM_001012509.3:c.888+46_888+47del	NP_001012527.1:n.888+46_888+47del
NM_001297417.2:c.563-9141_563-9140del	NP_001284346.2:n.563-9141_563-9140del
NM_016180.4:c.888+46_888+47del	NP_057264.3:n.888+46_888+47del
XM_011514051.1:c.486+46_486+47del	XP_011512353.1:n.486+46_486+47del
XM_011514052.1:c.888+46_888+47del	XP_011512354.1:n.888+46_888+47del
XR_925620.1:n.1705+46_1705+47del
NM_016180.5:c.888+46_888+47del MANE Select	NP_057264.4:n.888+46_888+47del
NM_001012509.4:c.888+46_888+47del	NP_001012527.2:n.888+46_888+47del
NM_001297417.3:c.563-9141_563-9140del	NP_001284346.2:n.563-9141_563-9140del
NM_001297417.4:c.563-9141_563-9140del	NP_001284346.2:n.563-9141_563-9140del