Canonical Allele Identifier: CA558967307

Gene: SLC45A2

Linked Data

• dbSNP Id: rs1345984163
• gnomAD v2: 5-33958648-GTCTC-G
• gnomAD v3: 5-33958543-GTCTC-G
• gnomAD v4: 5-33958543-GTCTC-G
• MyVariant Identifiers: chr5:g.33958649_33958652del (hg19) ; chr5:g.33958544_33958547del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33958549_33958552del , CM000667.2:g.33958549_33958552del	GRCh38
NC_000005.9:g.33958654_33958657del , CM000667.1:g.33958654_33958657del	GRCh37
NC_000005.8:g.33994411_33994414del	NCBI36
NG_011691.2:g.31129_31132del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.889-4043_889-4040del MANE Select	ENSP00000296589.4:n.889-4043_889-4040del
ENST00000296589.8:c.889-4043_889-4040del	ENSP00000296589.4:n.889-4043_889-4040del
ENST00000382102.7:c.889-4043_889-4040del	ENSP00000371534.3:n.889-4043_889-4040del
ENST00000509381.1:c.563-4043_563-4040del	ENSP00000421100.1:n.563-4043_563-4040del
ENST00000510600.1:c.364-4043_364-4040del	ENSP00000424010.1:n.364-4043_364-4040del
NM_001012509.3:c.889-4043_889-4040del	NP_001012527.1:n.889-4043_889-4040del
NM_001297417.2:c.563-4043_563-4040del	NP_001284346.2:n.563-4043_563-4040del
NM_016180.4:c.889-4043_889-4040del	NP_057264.3:n.889-4043_889-4040del
XM_011514051.1:c.487-4043_487-4040del	XP_011512353.1:n.487-4043_487-4040del
XR_925620.1:n.1706-4043_1706-4040del
NM_016180.5:c.889-4043_889-4040del MANE Select	NP_057264.4:n.889-4043_889-4040del
NM_001012509.4:c.889-4043_889-4040del	NP_001012527.2:n.889-4043_889-4040del
NM_001297417.3:c.563-4043_563-4040del	NP_001284346.2:n.563-4043_563-4040del
NM_001297417.4:c.563-4043_563-4040del	NP_001284346.2:n.563-4043_563-4040del