Canonical Allele Identifier: CA810015554

Gene: SLC45A2

Linked Data

• dbSNP Id: rs1325044296
• gnomAD v4: 5-33964120-G-GC
• MyVariant Identifiers: chr5:g.33964225_33964226insC (hg19) ; chr5:g.33964120_33964121insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33964120_33964121insC , CM000667.2:g.33964120_33964121insC	GRCh38
NC_000005.9:g.33964225_33964226insC , CM000667.1:g.33964225_33964226insC	GRCh37
NC_000005.8:g.33999982_33999983insC	NCBI36
NG_011691.2:g.25555_25556insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.563-105_563-104insG MANE Select	ENSP00000296589.4:n.563-105_563-104insG
ENST00000296589.8:c.563-105_563-104insG	ENSP00000296589.4:n.563-105_563-104insG
ENST00000382102.7:c.563-105_563-104insG	ENSP00000371534.3:n.563-105_563-104insG
ENST00000505056.1:n.365-105_365-104insG
ENST00000509381.1:c.563-9617_563-9616insG	ENSP00000421100.1:n.563-9617_563-9616insG
ENST00000510600.1:c.38-105_38-104insG	ENSP00000424010.1:n.38-105_38-104insG
NM_001012509.3:c.563-105_563-104insG	NP_001012527.1:n.563-105_563-104insG
NM_001297417.2:c.563-9617_563-9616insG	NP_001284346.2:n.563-9617_563-9616insG
NM_016180.4:c.563-105_563-104insG	NP_057264.3:n.563-105_563-104insG
XM_011514051.1:c.161-105_161-104insG	XP_011512353.1:n.161-105_161-104insG
XM_011514052.1:c.563-105_563-104insG	XP_011512354.1:n.563-105_563-104insG
XR_925620.1:n.1380-105_1380-104insG
NM_016180.5:c.563-105_563-104insG MANE Select	NP_057264.4:n.563-105_563-104insG
NM_001012509.4:c.563-105_563-104insG	NP_001012527.2:n.563-105_563-104insG
NM_001297417.3:c.563-9617_563-9616insG	NP_001284346.2:n.563-9617_563-9616insG
NM_001297417.4:c.563-9617_563-9616insG	NP_001284346.2:n.563-9617_563-9616insG