Canonical Allele Identifier: CA443872610

Gene: SLC45A2

Linked Data

• dbSNP Id: rs1753189084
• gnomAD v4: 5-33984510-ACAGAGT-A
• MyVariant Identifiers: chr5:g.33984616_33984621del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33984513_33984518del , CM000667.2:g.33984513_33984518del	GRCh38
NC_000005.9:g.33984618_33984623del , CM000667.1:g.33984618_33984623del	GRCh37
NC_000005.8:g.34020375_34020380del	NCBI36
NG_011691.2:g.5160_5165del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.68_73del MANE Select	ENSP00000296589.4:p.Asp23_Ser24del
ENST00000296589.8:c.68_73del	ENSP00000296589.4:p.Asp23_Ser24del
ENST00000382102.7:c.68_73del	ENSP00000371534.3:p.Asp23_Ser24del
ENST00000505056.1:n.47_52del
ENST00000509381.1:c.68_73del	ENSP00000421100.1:p.Asp23_Ser24del
NM_001012509.3:c.68_73del	NP_001012527.1:p.Asp23_Ser24del
NM_001297417.2:c.68_73del	NP_001284346.2:p.Asp23_Ser24del
NM_016180.4:c.68_73del	NP_057264.3:p.Asp23_Ser24del
XM_011514052.1:c.68_73del	XP_011512354.1:p.Asp23_Ser24del
XR_925620.1:n.629_634del
NM_016180.5:c.68_73del MANE Select	NP_057264.4:p.Asp23_Ser24del
NM_001012509.4:c.68_73del	NP_001012527.2:p.Asp23_Ser24del
NM_001297417.3:c.68_73del	NP_001284346.2:p.Asp23_Ser24del
NM_001297417.4:c.68_73del	NP_001284346.2:p.Asp23_Ser24del