Canonical Allele Identifier: CA3225604

Gene: SLC45A2

Linked Data

• dbSNP Id: rs764769486
• ExAC: 5:33951802 CTGT / C
• gnomAD v2: 5-33951802-CTGT-C
• gnomAD v4: 5-33951697-CTGT-C
• MyVariant Identifiers: chr5:g.33951803_33951805del (hg19) ; chr5:g.33951698_33951700del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951700_33951702del , CM000667.2:g.33951700_33951702del	GRCh38
NC_000005.9:g.33951805_33951807del , CM000667.1:g.33951805_33951807del	GRCh37
NC_000005.8:g.33987562_33987564del	NCBI36
NG_011691.2:g.37976_37978del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1033-23_1033-21del MANE Select	ENSP00000296589.4:n.1033-23_1033-21del
ENST00000296589.8:c.1033-23_1033-21del	ENSP00000296589.4:n.1033-23_1033-21del
ENST00000382102.7:c.1033-23_1033-21del	ENSP00000371534.3:n.1033-23_1033-21del
ENST00000509381.1:c.707-23_707-21del	ENSP00000421100.1:n.707-23_707-21del
ENST00000510600.1:c.508-23_508-21del	ENSP00000424010.1:n.508-23_508-21del
NM_001012509.3:c.1033-23_1033-21del	NP_001012527.1:n.1033-23_1033-21del
NM_001297417.2:c.707-23_707-21del	NP_001284346.2:n.707-23_707-21del
NM_016180.4:c.1033-23_1033-21del	NP_057264.3:n.1033-23_1033-21del
XM_011514051.1:c.631-23_631-21del	XP_011512353.1:n.631-23_631-21del
XR_925620.1:n.1850-23_1850-21del
NM_016180.5:c.1033-23_1033-21del MANE Select	NP_057264.4:n.1033-23_1033-21del
NM_001012509.4:c.1033-23_1033-21del	NP_001012527.2:n.1033-23_1033-21del
NM_001297417.3:c.707-23_707-21del	NP_001284346.2:n.707-23_707-21del
NM_001297417.4:c.707-23_707-21del	NP_001284346.2:n.707-23_707-21del