Canonical Allele Identifier: CA3225745

Gene: SLC45A2

Linked Data

• ClinVar Variation Id: 3008976
• ClinVar RCV Id: RCV003862103
• dbSNP Id: rs756478014
• ExAC: 5:33964139 CTA / C
• gnomAD v2: 5-33964139-CTA-C
• gnomAD v3: 5-33964034-CTA-C
• gnomAD v4: 5-33964034-CTA-C
• MyVariant Identifiers: chr5:g.33964140_33964141del (hg19) ; chr5:g.33964035_33964036del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33964036_33964037del , CM000667.2:g.33964036_33964037del	GRCh38
NC_000005.9:g.33964141_33964142del , CM000667.1:g.33964141_33964142del	GRCh37
NC_000005.8:g.33999898_33999899del	NCBI36
NG_011691.2:g.25640_25641del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.563-20_563-19del MANE Select	ENSP00000296589.4:n.563-20_563-19del
ENST00000296589.8:c.563-20_563-19del	ENSP00000296589.4:n.563-20_563-19del
ENST00000382102.7:c.563-20_563-19del	ENSP00000371534.3:n.563-20_563-19del
ENST00000505056.1:n.365-20_365-19del
ENST00000509381.1:c.563-9532_563-9531del	ENSP00000421100.1:n.563-9532_563-9531del
ENST00000510600.1:c.38-20_38-19del	ENSP00000424010.1:n.38-20_38-19del
NM_001012509.3:c.563-20_563-19del	NP_001012527.1:n.563-20_563-19del
NM_001297417.2:c.563-9532_563-9531del	NP_001284346.2:n.563-9532_563-9531del
NM_016180.4:c.563-20_563-19del	NP_057264.3:n.563-20_563-19del
XM_011514051.1:c.161-20_161-19del	XP_011512353.1:n.161-20_161-19del
XM_011514052.1:c.563-20_563-19del	XP_011512354.1:n.563-20_563-19del
XR_925620.1:n.1380-20_1380-19del
NM_016180.5:c.563-20_563-19del MANE Select	NP_057264.4:n.563-20_563-19del
NM_001012509.4:c.563-20_563-19del	NP_001012527.2:n.563-20_563-19del
NM_001297417.3:c.563-9532_563-9531del	NP_001284346.2:n.563-9532_563-9531del
NM_001297417.4:c.563-9532_563-9531del	NP_001284346.2:n.563-9532_563-9531del