Canonical Allele Identifier: CA2673477369

Gene: SLC45A2

Linked Data

• gnomAD v4: 5-33964096-T-TTTTCCCACTGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33964096_33964097insTTTCCCACTGAA , CM000667.2:g.33964096_33964097insTTTCCCACTGAA	GRCh38
NC_000005.9:g.33964201_33964202insTTTCCCACTGAA , CM000667.1:g.33964201_33964202insTTTCCCACTGAA	GRCh37
NC_000005.8:g.33999958_33999959insTTTCCCACTGAA	NCBI36
NG_011691.2:g.25579_25580insTTCAGTGGGAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.563-81_563-80insTTCAGTGGGAAA MANE Select	ENSP00000296589.4:n.563-81_563-80insTTCAGTGGGAAA
ENST00000296589.8:c.563-81_563-80insTTCAGTGGGAAA	ENSP00000296589.4:n.563-81_563-80insTTCAGTGGGAAA
ENST00000382102.7:c.563-81_563-80insTTCAGTGGGAAA	ENSP00000371534.3:n.563-81_563-80insTTCAGTGGGAAA
ENST00000505056.1:n.365-81_365-80insTTCAGTGGGAAA
ENST00000509381.1:c.563-9593_563-9592insTTCAGTGGGAAA	ENSP00000421100.1:n.563-9593_563-9592insTTCAGTGGGAAA
ENST00000510600.1:c.38-81_38-80insTTCAGTGGGAAA	ENSP00000424010.1:n.38-81_38-80insTTCAGTGGGAAA
NM_001012509.3:c.563-81_563-80insTTCAGTGGGAAA	NP_001012527.1:n.563-81_563-80insTTCAGTGGGAAA
NM_001297417.2:c.563-9593_563-9592insTTCAGTGGGAAA	NP_001284346.2:n.563-9593_563-9592insTTCAGTGGGAAA
NM_016180.4:c.563-81_563-80insTTCAGTGGGAAA	NP_057264.3:n.563-81_563-80insTTCAGTGGGAAA
XM_011514051.1:c.161-81_161-80insTTCAGTGGGAAA	XP_011512353.1:n.161-81_161-80insTTCAGTGGGAAA
XM_011514052.1:c.563-81_563-80insTTCAGTGGGAAA	XP_011512354.1:n.563-81_563-80insTTCAGTGGGAAA
XR_925620.1:n.1380-81_1380-80insTTCAGTGGGAAA
NM_016180.5:c.563-81_563-80insTTCAGTGGGAAA MANE Select	NP_057264.4:n.563-81_563-80insTTCAGTGGGAAA
NM_001012509.4:c.563-81_563-80insTTCAGTGGGAAA	NP_001012527.2:n.563-81_563-80insTTCAGTGGGAAA
NM_001297417.3:c.563-9593_563-9592insTTCAGTGGGAAA	NP_001284346.2:n.563-9593_563-9592insTTCAGTGGGAAA
NM_001297417.4:c.563-9593_563-9592insTTCAGTGGGAAA	NP_001284346.2:n.563-9593_563-9592insTTCAGTGGGAAA