Canonical Allele Identifier: CA116877815

Gene: SLC45A2

Linked Data

• dbSNP Id: rs1035525139
• gnomAD v2: 5-33951607-GT-G
• gnomAD v4: 5-33951502-GT-G
• MyVariant Identifiers: chr5:g.33951608del (hg19) ; chr5:g.33951503del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951503del , CM000667.2:g.33951503del	GRCh38
NC_000005.9:g.33951608del , CM000667.1:g.33951608del	GRCh37
NC_000005.8:g.33987365del	NCBI36
NG_011691.2:g.38173del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1156+51del MANE Select	ENSP00000296589.4:n.1156+51del
ENST00000296589.8:c.1156+51del	ENSP00000296589.4:n.1156+51del
ENST00000382102.7:c.1156+51del	ENSP00000371534.3:n.1156+51del
ENST00000509381.1:c.*149del	ENSP00000421100.1:n.*149del
ENST00000510600.1:c.631+51del	ENSP00000424010.1:n.631+51del
NM_001012509.3:c.1156+51del	NP_001012527.1:n.1156+51del
NM_001297417.2:c.*149del	NP_001284346.2:n.*149del
NM_016180.4:c.1156+51del	NP_057264.3:n.1156+51del
XM_011514051.1:c.754+51del	XP_011512353.1:n.754+51del
XR_925620.1:n.1973+51del
NM_016180.5:c.1156+51del MANE Select	NP_057264.4:n.1156+51del
NM_001012509.4:c.1156+51del	NP_001012527.2:n.1156+51del
NM_001297417.3:c.*149del	NP_001284346.2:n.*149del
NM_001297417.4:c.*149del	NP_001284346.2:n.*149del