Canonical Allele Identifier: CA559293842

Gene: SLC45A2

Linked Data

• dbSNP Id: rs1448291320
• gnomAD v2: 5-33963732-AAC-A
• gnomAD v3: 5-33963627-AAC-A
• gnomAD v4: 5-33963627-AAC-A
• MyVariant Identifiers: chr5:g.33963733_33963734del (hg19) ; chr5:g.33963628_33963629del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963629_33963630del , CM000667.2:g.33963629_33963630del	GRCh38
NC_000005.9:g.33963734_33963735del , CM000667.1:g.33963734_33963735del	GRCh37
NC_000005.8:g.33999491_33999492del	NCBI36
NG_011691.2:g.26047_26048del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.888+62_888+63del MANE Select	ENSP00000296589.4:n.888+62_888+63del
ENST00000296589.8:c.888+62_888+63del	ENSP00000296589.4:n.888+62_888+63del
ENST00000382102.7:c.888+62_888+63del	ENSP00000371534.3:n.888+62_888+63del
ENST00000509381.1:c.563-9125_563-9124del	ENSP00000421100.1:n.563-9125_563-9124del
ENST00000510600.1:c.363+62_363+63del	ENSP00000424010.1:n.363+62_363+63del
NM_001012509.3:c.888+62_888+63del	NP_001012527.1:n.888+62_888+63del
NM_001297417.2:c.563-9125_563-9124del	NP_001284346.2:n.563-9125_563-9124del
NM_016180.4:c.888+62_888+63del	NP_057264.3:n.888+62_888+63del
XM_011514051.1:c.486+62_486+63del	XP_011512353.1:n.486+62_486+63del
XM_011514052.1:c.888+62_888+63del	XP_011512354.1:n.888+62_888+63del
XR_925620.1:n.1705+62_1705+63del
NM_016180.5:c.888+62_888+63del MANE Select	NP_057264.4:n.888+62_888+63del
NM_001012509.4:c.888+62_888+63del	NP_001012527.2:n.888+62_888+63del
NM_001297417.3:c.563-9125_563-9124del	NP_001284346.2:n.563-9125_563-9124del
NM_001297417.4:c.563-9125_563-9124del	NP_001284346.2:n.563-9125_563-9124del