Canonical Allele Identifier: CA1538211681

Gene: SLC45A2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951568_33951569delinsGA , CM000667.2:g.33951568_33951569delinsGA	GRCh38
NC_000005.9:g.33951673_33951674delinsGA , CM000667.1:g.33951673_33951674delinsGA	GRCh37
NC_000005.8:g.33987430_33987431delinsGA	NCBI36
NG_011691.2:g.38107_38108delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1141_1142delinsTC MANE Select	ENSP00000296589.4:p.Ser381=
ENST00000296589.8:c.1141_1142delinsTC	ENSP00000296589.4:p.Ser381=
ENST00000382102.7:c.1141_1142delinsTC	ENSP00000371534.3:p.Ser381=
ENST00000509381.1:c.*83_*84delinsTC	ENSP00000421100.1:n.*83_*84delinsTC
ENST00000510600.1:c.616_617delinsTC	ENSP00000424010.1:p.Ser206=
NM_001012509.3:c.1141_1142delinsTC	NP_001012527.1:p.Ser381=
NM_001297417.2:c.*83_*84delinsTC	NP_001284346.2:n.*83_*84delinsTC
NM_016180.4:c.1141_1142delinsTC	NP_057264.3:p.Ser381=
XM_011514051.1:c.739_740delinsTC	XP_011512353.1:p.Ser247=
XR_925620.1:n.1958_1959delinsTC
NM_016180.5:c.1141_1142delinsTC MANE Select	NP_057264.4:p.Ser381=
NM_001012509.4:c.1141_1142delinsTC	NP_001012527.2:p.Ser381=
NM_001297417.3:c.*83_*84delinsTC	NP_001284346.2:n.*83_*84delinsTC
NM_001297417.4:c.*83_*84delinsTC	NP_001284346.2:n.*83_*84delinsTC