Canonical Allele Identifier: CA2673477947

Gene: SLC45A2

Linked Data

• gnomAD v4: 5-33984224-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33984224_33984225insC , CM000667.2:g.33984224_33984225insC	GRCh38
NC_000005.9:g.33984329_33984330insC , CM000667.1:g.33984329_33984330insC	GRCh37
NC_000005.8:g.34020086_34020087insC	NCBI36
NG_011691.2:g.5451_5452insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.359_360insG MANE Select	ENSP00000296589.4:p.Tyr120Ter
ENST00000296589.8:c.359_360insG	ENSP00000296589.4:p.Tyr120Ter
ENST00000382102.7:c.359_360insG	ENSP00000371534.3:p.Tyr120Ter
ENST00000505056.1:n.338_339insG
ENST00000509381.1:c.359_360insG	ENSP00000421100.1:p.Tyr120Ter
ENST00000510600.1:c.11_12insG	ENSP00000424010.1:p.Tyr4Ter
NM_001012509.3:c.359_360insG	NP_001012527.1:p.Tyr120Ter
NM_001297417.2:c.359_360insG	NP_001284346.2:p.Tyr120Ter
NM_016180.4:c.359_360insG	NP_057264.3:p.Tyr120Ter
XM_011514052.1:c.359_360insG	XP_011512354.1:p.Tyr120Ter
XR_925620.1:n.920_921insG
NM_016180.5:c.359_360insG MANE Select	NP_057264.4:p.Tyr120Ter
NM_001012509.4:c.359_360insG	NP_001012527.2:p.Tyr120Ter
NM_001297417.3:c.359_360insG	NP_001284346.2:p.Tyr120Ter
NM_001297417.4:c.359_360insG	NP_001284346.2:p.Tyr120Ter