Canonical Allele Identifier: CA1538195592
Gene: SLC45A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33963626_33963632delinsAAACAAC , CM000667.2:g.33963626_33963632delinsAAACAAC GRCh38
NC_000005.9:g.33963731_33963737delinsAAACAAC , CM000667.1:g.33963731_33963737delinsAAACAAC GRCh37
NC_000005.8:g.33999488_33999494delinsAAACAAC NCBI36
NG_011691.2:g.26044_26050delinsGTTGTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.888+59_888+65delinsGTTGTTT MANE Select ENSP00000296589.4:n.888+59_888+65delinsGTTGTTT
ENST00000296589.8:c.888+59_888+65delinsGTTGTTT ENSP00000296589.4:n.888+59_888+65delinsGTTGTTT
ENST00000382102.7:c.888+59_888+65delinsGTTGTTT ENSP00000371534.3:n.888+59_888+65delinsGTTGTTT
ENST00000509381.1:c.563-9128_563-9122delinsGTTGTTT ENSP00000421100.1:n.563-9128_563-9122delinsGTTGTTT
ENST00000510600.1:c.363+59_363+65delinsGTTGTTT ENSP00000424010.1:n.363+59_363+65delinsGTTGTTT
NM_001012509.3:c.888+59_888+65delinsGTTGTTT NP_001012527.1:n.888+59_888+65delinsGTTGTTT
NM_001297417.2:c.563-9128_563-9122delinsGTTGTTT NP_001284346.2:n.563-9128_563-9122delinsGTTGTTT
NM_016180.4:c.888+59_888+65delinsGTTGTTT NP_057264.3:n.888+59_888+65delinsGTTGTTT
XM_011514051.1:c.486+59_486+65delinsGTTGTTT XP_011512353.1:n.486+59_486+65delinsGTTGTTT
XM_011514052.1:c.888+59_888+65delinsGTTGTTT XP_011512354.1:n.888+59_888+65delinsGTTGTTT
XR_925620.1:n.1705+59_1705+65delinsGTTGTTT
NM_016180.5:c.888+59_888+65delinsGTTGTTT MANE Select NP_057264.4:n.888+59_888+65delinsGTTGTTT
NM_001012509.4:c.888+59_888+65delinsGTTGTTT NP_001012527.2:n.888+59_888+65delinsGTTGTTT
NM_001297417.3:c.563-9128_563-9122delinsGTTGTTT NP_001284346.2:n.563-9128_563-9122delinsGTTGTTT
NM_001297417.4:c.563-9128_563-9122delinsGTTGTTT NP_001284346.2:n.563-9128_563-9122delinsGTTGTTT