Canonical Allele Identifier: CA558969301

Gene: SLC45A2

Linked Data

• dbSNP Id: rs1220506332
• gnomAD v2: 5-33984600-CTTT-C
• MyVariant Identifiers: chr5:g.33984601_33984603del (hg19) ; chr5:g.33984496_33984498del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33984497_33984499del , CM000667.2:g.33984497_33984499del	GRCh38
NC_000005.9:g.33984602_33984604del , CM000667.1:g.33984602_33984604del	GRCh37
NC_000005.8:g.34020359_34020361del	NCBI36
NG_011691.2:g.5178_5180del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.86_88del MANE Select	ENSP00000296589.4:p.Lys29del
ENST00000296589.8:c.86_88del	ENSP00000296589.4:p.Lys29del
ENST00000382102.7:c.86_88del	ENSP00000371534.3:p.Lys29del
ENST00000505056.1:n.65_67del
ENST00000509381.1:c.86_88del	ENSP00000421100.1:p.Lys29del
NM_001012509.3:c.86_88del	NP_001012527.1:p.Lys29del
NM_001297417.2:c.86_88del	NP_001284346.2:p.Lys29del
NM_016180.4:c.86_88del	NP_057264.3:p.Lys29del
XM_011514052.1:c.86_88del	XP_011512354.1:p.Lys29del
XR_925620.1:n.647_649del
NM_016180.5:c.86_88del MANE Select	NP_057264.4:p.Lys29del
NM_001012509.4:c.86_88del	NP_001012527.2:p.Lys29del
NM_001297417.3:c.86_88del	NP_001284346.2:p.Lys29del
NM_001297417.4:c.86_88del	NP_001284346.2:p.Lys29del