Canonical Allele Identifier: CA2673477229

Gene: SLC45A2

Linked Data

• gnomAD v4: 5-33963629-CAACAACAACAACAAAGAGCAAGAATATTTTCCCTTGTAAAGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963632_33963673del , CM000667.2:g.33963632_33963673del	GRCh38
NC_000005.9:g.33963737_33963778del , CM000667.1:g.33963737_33963778del	GRCh37
NC_000005.8:g.33999494_33999535del	NCBI36
NG_011691.2:g.26005_26046del

Transcript Alleles

HGVS	Amino-acid change
ENST00000296589.9:c.888+20_888+61del MANE Select	ENSP00000296589.4:n.888+20_888+61del
ENST00000296589.8:c.888+20_888+61del	ENSP00000296589.4:n.888+20_888+61del
ENST00000382102.7:c.888+20_888+61del	ENSP00000371534.3:n.888+20_888+61del
ENST00000509381.1:c.563-9167_563-9126del	ENSP00000421100.1:n.563-9167_563-9126del
ENST00000510600.1:c.363+20_363+61del	ENSP00000424010.1:n.363+20_363+61del
NM_001012509.3:c.888+20_888+61del	NP_001012527.1:n.888+20_888+61del
NM_001297417.2:c.563-9167_563-9126del	NP_001284346.2:n.563-9167_563-9126del
NM_016180.4:c.888+20_888+61del	NP_057264.3:n.888+20_888+61del
XM_011514051.1:c.486+20_486+61del	XP_011512353.1:n.486+20_486+61del
XM_011514052.1:c.888+20_888+61del	XP_011512354.1:n.888+20_888+61del
XR_925620.1:n.1705+20_1705+61del
NM_016180.5:c.888+20_888+61del MANE Select	NP_057264.4:n.888+20_888+61del
NM_001012509.4:c.888+20_888+61del	NP_001012527.2:n.888+20_888+61del
NM_001297417.3:c.563-9167_563-9126del	NP_001284346.2:n.563-9167_563-9126del
NM_001297417.4:c.563-9167_563-9126del	NP_001284346.2:n.563-9167_563-9126del