Canonical Allele Identifier: CA1074899661

Gene: SLC45A2

Linked Data

• dbSNP Id: rs1753181804
• gnomAD v3: 5-33984417-A-ATGTG
• gnomAD v4: 5-33984417-A-ATGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33984417_33984418insTGTG , CM000667.2:g.33984417_33984418insTGTG	GRCh38
NC_000005.9:g.33984522_33984523insTGTG , CM000667.1:g.33984522_33984523insTGTG	GRCh37
NC_000005.8:g.34020279_34020280insTGTG	NCBI36
NG_011691.2:g.5258_5259insCACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.166_167insCACA MANE Select	ENSP00000296589.4:p.Val56AlafsTer?
ENST00000296589.8:c.166_167insCACA	ENSP00000296589.4:p.Val56AlafsTer?
ENST00000382102.7:c.166_167insCACA	ENSP00000371534.3:p.Val56AlafsTer?
ENST00000505056.1:n.145_146insCACA
ENST00000509381.1:c.166_167insCACA	ENSP00000421100.1:p.Val56AlafsTer?
NM_001012509.3:c.166_167insCACA	NP_001012527.1:p.Val56AlafsTer?
NM_001297417.2:c.166_167insCACA	NP_001284346.2:p.Val56AlafsTer?
NM_016180.4:c.166_167insCACA	NP_057264.3:p.Val56AlafsTer?
XM_011514052.1:c.166_167insCACA	XP_011512354.1:p.Val56AlafsTer?
XR_925620.1:n.727_728insCACA
NM_016180.5:c.166_167insCACA MANE Select	NP_057264.4:p.Val56AlafsTer?
NM_001012509.4:c.166_167insCACA	NP_001012527.2:p.Val56AlafsTer?
NM_001297417.3:c.166_167insCACA	NP_001284346.2:p.Val56AlafsTer?
NM_001297417.4:c.166_167insCACA	NP_001284346.2:p.Val56AlafsTer?