Canonical Allele Identifier: CA2673477237

Gene: SLC45A2

Linked Data

• gnomAD v4: 5-33963647-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963648del , CM000667.2:g.33963648del	GRCh38
NC_000005.9:g.33963753del , CM000667.1:g.33963753del	GRCh37
NC_000005.8:g.33999510del	NCBI36
NG_011691.2:g.26028del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.888+43del MANE Select	ENSP00000296589.4:n.888+43del
ENST00000296589.8:c.888+43del	ENSP00000296589.4:n.888+43del
ENST00000382102.7:c.888+43del	ENSP00000371534.3:n.888+43del
ENST00000505056.1:n.733del
ENST00000509381.1:c.563-9144del	ENSP00000421100.1:n.563-9144del
ENST00000510600.1:c.363+43del	ENSP00000424010.1:n.363+43del
NM_001012509.3:c.888+43del	NP_001012527.1:n.888+43del
NM_001297417.2:c.563-9144del	NP_001284346.2:n.563-9144del
NM_016180.4:c.888+43del	NP_057264.3:n.888+43del
XM_011514051.1:c.486+43del	XP_011512353.1:n.486+43del
XM_011514052.1:c.888+43del	XP_011512354.1:n.888+43del
XR_925620.1:n.1705+43del
NM_016180.5:c.888+43del MANE Select	NP_057264.4:n.888+43del
NM_001012509.4:c.888+43del	NP_001012527.2:n.888+43del
NM_001297417.3:c.563-9144del	NP_001284346.2:n.563-9144del
NM_001297417.4:c.563-9144del	NP_001284346.2:n.563-9144del