Canonical Allele Identifier: CA1538185239
Gene: SLC45A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33955642_33955658delinsTACACACACACACACAA , CM000667.2:g.33955642_33955658delinsTACACACACACACACAA GRCh38
NC_000005.9:g.33955747_33955763delinsTACACACACACACACAA , CM000667.1:g.33955747_33955763delinsTACACACACACACACAA GRCh37
NC_000005.8:g.33991504_33991520delinsTACACACACACACACAA NCBI36
NG_011691.2:g.34018_34034delinsTTGTGTGTGTGTGTGTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.889-1154_889-1138delinsTTGTGTGTGTGTGTGTA MANE Select ENSP00000296589.4:n.889-1154_889-1138delinsTTGTGTGTGTGTGTGTA
ENST00000296589.8:c.889-1154_889-1138delinsTTGTGTGTGTGTGTGTA ENSP00000296589.4:n.889-1154_889-1138delinsTTGTGTGTGTGTGTGTA
ENST00000382102.7:c.889-1154_889-1138delinsTTGTGTGTGTGTGTGTA ENSP00000371534.3:n.889-1154_889-1138delinsTTGTGTGTGTGTGTGTA
ENST00000509381.1:c.563-1154_563-1138delinsTTGTGTGTGTGTGTGTA ENSP00000421100.1:n.563-1154_563-1138delinsTTGTGTGTGTGTGTGTA
ENST00000510600.1:c.364-1154_364-1138delinsTTGTGTGTGTGTGTGTA ENSP00000424010.1:n.364-1154_364-1138delinsTTGTGTGTGTGTGTGTA
NM_001012509.3:c.889-1154_889-1138delinsTTGTGTGTGTGTGTGTA NP_001012527.1:n.889-1154_889-1138delinsTTGTGTGTGTGTGTGTA
NM_001297417.2:c.563-1154_563-1138delinsTTGTGTGTGTGTGTGTA NP_001284346.2:n.563-1154_563-1138delinsTTGTGTGTGTGTGTGTA
NM_016180.4:c.889-1154_889-1138delinsTTGTGTGTGTGTGTGTA NP_057264.3:n.889-1154_889-1138delinsTTGTGTGTGTGTGTGTA
XM_011514051.1:c.487-1154_487-1138delinsTTGTGTGTGTGTGTGTA XP_011512353.1:n.487-1154_487-1138delinsTTGTGTGTGTGTGTGTA
XR_925620.1:n.1706-1154_1706-1138delinsTTGTGTGTGTGTGTGTA
NM_016180.5:c.889-1154_889-1138delinsTTGTGTGTGTGTGTGTA MANE Select NP_057264.4:n.889-1154_889-1138delinsTTGTGTGTGTGTGTGTA
NM_001012509.4:c.889-1154_889-1138delinsTTGTGTGTGTGTGTGTA NP_001012527.2:n.889-1154_889-1138delinsTTGTGTGTGTGTGTGTA
NM_001297417.3:c.563-1154_563-1138delinsTTGTGTGTGTGTGTGTA NP_001284346.2:n.563-1154_563-1138delinsTTGTGTGTGTGTGTGTA
NM_001297417.4:c.563-1154_563-1138delinsTTGTGTGTGTGTGTGTA NP_001284346.2:n.563-1154_563-1138delinsTTGTGTGTGTGTGTGTA