Canonical Allele Identifier: CA3225905

Gene: SLC45A2

Linked Data

• dbSNP Id: rs768462634
• ExAC: 5:33984719 CCA / C
• gnomAD v2: 5-33984719-CCA-C
• gnomAD v4: 5-33984614-CCA-C
• MyVariant Identifiers: chr5:g.33984720_33984721del (hg19) ; chr5:g.33984615_33984616del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33984616_33984617del , CM000667.2:g.33984616_33984617del	GRCh38
NC_000005.9:g.33984721_33984722del , CM000667.1:g.33984721_33984722del	GRCh37
NC_000005.8:g.34020478_34020479del	NCBI36
NG_011691.2:g.5060_5061del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.-33_-32del MANE Select	ENSP00000296589.4:n.-33_-32del
ENST00000296589.8:c.-33_-32del	ENSP00000296589.4:n.-33_-32del
ENST00000382102.7:c.-33_-32del	ENSP00000371534.3:n.-33_-32del
ENST00000509381.1:c.-33_-32del	ENSP00000421100.1:n.-33_-32del
NM_001012509.3:c.-33_-32del	NP_001012527.1:n.-33_-32del
NM_001297417.2:c.-33_-32del	NP_001284346.2:n.-33_-32del
NM_016180.4:c.-33_-32del	NP_057264.3:n.-33_-32del
XM_011514052.1:c.-33_-32del	XP_011512354.1:n.-33_-32del
XR_925620.1:n.529_530del
NM_016180.5:c.-33_-32del MANE Select	NP_057264.4:n.-33_-32del
NM_001012509.4:c.-33_-32del	NP_001012527.2:n.-33_-32del
NM_001297417.3:c.-33_-32del	NP_001284346.2:n.-33_-32del
NM_001297417.4:c.-33_-32del	NP_001284346.2:n.-33_-32del