Canonical Allele Identifier: CA2673476888

Gene: SLC45A2

Linked Data

• gnomAD v4: 5-33951438-GATTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951442_33951445del , CM000667.2:g.33951442_33951445del	GRCh38
NC_000005.9:g.33951547_33951550del , CM000667.1:g.33951547_33951550del	GRCh37
NC_000005.8:g.33987304_33987307del	NCBI36
NG_011691.2:g.38234_38237del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1156+112_1156+115del MANE Select	ENSP00000296589.4:n.1156+112_1156+115del
ENST00000296589.8:c.1156+112_1156+115del	ENSP00000296589.4:n.1156+112_1156+115del
ENST00000382102.7:c.1156+112_1156+115del	ENSP00000371534.3:n.1156+112_1156+115del
ENST00000509381.1:c.*210_*213del	ENSP00000421100.1:n.*210_*213del
ENST00000510600.1:c.631+112_631+115del	ENSP00000424010.1:n.631+112_631+115del
NM_001012509.3:c.1156+112_1156+115del	NP_001012527.1:n.1156+112_1156+115del
NM_001297417.2:c.*210_*213del	NP_001284346.2:n.*210_*213del
NM_016180.4:c.1156+112_1156+115del	NP_057264.3:n.1156+112_1156+115del
XM_011514051.1:c.754+112_754+115del	XP_011512353.1:n.754+112_754+115del
XR_925620.1:n.1973+112_1973+115del
NM_016180.5:c.1156+112_1156+115del MANE Select	NP_057264.4:n.1156+112_1156+115del
NM_001012509.4:c.1156+112_1156+115del	NP_001012527.2:n.1156+112_1156+115del
NM_001297417.3:c.*210_*213del	NP_001284346.2:n.*210_*213del
NM_001297417.4:c.*210_*213del	NP_001284346.2:n.*210_*213del