Canonical Allele Identifier: CA2673477951

Gene: SLC45A2

Linked Data

• ClinVar Variation Id: 2881185
• ClinVar RCV Id: RCV003715801
• gnomAD v4: 5-33984325-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33984328del , CM000667.2:g.33984328del	GRCh38
NC_000005.9:g.33984433del , CM000667.1:g.33984433del	GRCh37
NC_000005.8:g.34020190del	NCBI36
NG_011691.2:g.5350del

Transcript Alleles

HGVS	Amino-acid change
ENST00000296589.9:c.258del MANE Select	ENSP00000296589.4:p.Val87TrpfsTer26
ENST00000296589.8:c.258del	ENSP00000296589.4:p.Val87TrpfsTer26
ENST00000382102.7:c.258del	ENSP00000371534.3:p.Val87TrpfsTer26
ENST00000505056.1:n.237del
ENST00000509381.1:c.258del	ENSP00000421100.1:p.Val87TrpfsTer26
NM_001012509.3:c.258del	NP_001012527.1:p.Val87TrpfsTer26
NM_001297417.2:c.258del	NP_001284346.2:p.Val87TrpfsTer26
NM_016180.4:c.258del	NP_057264.3:p.Val87TrpfsTer26
XM_011514052.1:c.258del	XP_011512354.1:p.Val87TrpfsTer26
XR_925620.1:n.819del
NM_016180.5:c.258del MANE Select	NP_057264.4:p.Val87TrpfsTer26
NM_001012509.4:c.258del	NP_001012527.2:p.Val87TrpfsTer26
NM_001297417.3:c.258del	NP_001284346.2:p.Val87TrpfsTer26
NM_001297417.4:c.258del	NP_001284346.2:p.Val87TrpfsTer26