Canonical Allele Identifier: CA558966580

Gene: SLC45A2

Linked Data

• dbSNP Id: rs1203527802
• gnomAD v2: 5-33951993-TCAA-T
• gnomAD v3: 5-33951888-TCAA-T
• gnomAD v4: 5-33951888-TCAA-T
• MyVariant Identifiers: chr5:g.33951994_33951996del (hg19) ; chr5:g.33951889_33951891del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951894_33951896del , CM000667.2:g.33951894_33951896del	GRCh38
NC_000005.9:g.33951999_33952001del , CM000667.1:g.33951999_33952001del	GRCh37
NC_000005.8:g.33987756_33987758del	NCBI36
NG_011691.2:g.37785_37787del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1033-214_1033-212del MANE Select	ENSP00000296589.4:n.1033-214_1033-212del
ENST00000296589.8:c.1033-214_1033-212del	ENSP00000296589.4:n.1033-214_1033-212del
ENST00000382102.7:c.1033-214_1033-212del	ENSP00000371534.3:n.1033-214_1033-212del
ENST00000509381.1:c.707-214_707-212del	ENSP00000421100.1:n.707-214_707-212del
ENST00000510600.1:c.508-214_508-212del	ENSP00000424010.1:n.508-214_508-212del
NM_001012509.3:c.1033-214_1033-212del	NP_001012527.1:n.1033-214_1033-212del
NM_001297417.2:c.707-214_707-212del	NP_001284346.2:n.707-214_707-212del
NM_016180.4:c.1033-214_1033-212del	NP_057264.3:n.1033-214_1033-212del
XM_011514051.1:c.631-214_631-212del	XP_011512353.1:n.631-214_631-212del
XR_925620.1:n.1850-214_1850-212del
NM_016180.5:c.1033-214_1033-212del MANE Select	NP_057264.4:n.1033-214_1033-212del
NM_001012509.4:c.1033-214_1033-212del	NP_001012527.2:n.1033-214_1033-212del
NM_001297417.3:c.707-214_707-212del	NP_001284346.2:n.707-214_707-212del
NM_001297417.4:c.707-214_707-212del	NP_001284346.2:n.707-214_707-212del