Canonical Allele Identifier: CA810014730

Gene: SLC45A2

Linked Data

• dbSNP Id: rs71804644
• gnomAD v3: 5-33963626-AAACAAC-A
• gnomAD v4: 5-33963626-AAACAAC-A
• MyVariant Identifiers: chr5:g.33963732_33963737del (hg19) ; chr5:g.33963627_33963632del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963638_33963643del , CM000667.2:g.33963638_33963643del	GRCh38
NC_000005.9:g.33963743_33963748del , CM000667.1:g.33963743_33963748del	GRCh37
NC_000005.8:g.33999500_33999505del	NCBI36
NG_011691.2:g.26044_26049del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.888+59_888+64del MANE Select	ENSP00000296589.4:n.888+59_888+64del
ENST00000296589.8:c.888+59_888+64del	ENSP00000296589.4:n.888+59_888+64del
ENST00000382102.7:c.888+59_888+64del	ENSP00000371534.3:n.888+59_888+64del
ENST00000509381.1:c.563-9128_563-9123del	ENSP00000421100.1:n.563-9128_563-9123del
ENST00000510600.1:c.363+59_363+64del	ENSP00000424010.1:n.363+59_363+64del
NM_001012509.3:c.888+59_888+64del	NP_001012527.1:n.888+59_888+64del
NM_001297417.2:c.563-9128_563-9123del	NP_001284346.2:n.563-9128_563-9123del
NM_016180.4:c.888+59_888+64del	NP_057264.3:n.888+59_888+64del
XM_011514051.1:c.486+59_486+64del	XP_011512353.1:n.486+59_486+64del
XM_011514052.1:c.888+59_888+64del	XP_011512354.1:n.888+59_888+64del
XR_925620.1:n.1705+59_1705+64del
NM_016180.5:c.888+59_888+64del MANE Select	NP_057264.4:n.888+59_888+64del
NM_001012509.4:c.888+59_888+64del	NP_001012527.2:n.888+59_888+64del
NM_001297417.3:c.563-9128_563-9123del	NP_001284346.2:n.563-9128_563-9123del
NM_001297417.4:c.563-9128_563-9123del	NP_001284346.2:n.563-9128_563-9123del