Canonical Allele Identifier: CA2813582390
Gene: SLC44A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10631198del , CM000681.2:g.10631198del GRCh38
NC_000019.9:g.10741874del , CM000681.1:g.10741874del GRCh37
NC_000019.8:g.10602874del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000335757.10:c.330+57del MANE Select ENSP00000336888.4:n.330+57del
ENST00000335757.9:c.330+57del ENSP00000336888.4:n.330+57del
ENST00000407327.8:c.324+57del ENSP00000385135.3:n.324+57del
ENST00000586078.5:c.330+57del ENSP00000466664.1:n.330+57del
ENST00000588409.1:c.245+3194del ENSP00000468070.1:n.245+3194del
ENST00000588465.5:n.239+57del
ENST00000588688.5:c.171+57del ENSP00000467552.1:n.171+57del
ENST00000590382.5:c.165+57del ENSP00000468691.1:n.165+57del
ENST00000590857.5:c.-220+57del ENSP00000465547.1:n.-220+57del
ENST00000592293.5:c.*127+57del ENSP00000466612.1:n.*127+57del
NM_001145056.1:c.324+57del NP_001138528.1:n.324+57del
NM_020428.3:c.330+57del NP_065161.3:n.330+57del
XM_005259997.1:c.330+57del XP_005260054.1:n.330+57del
XM_005259999.1:c.324+57del XP_005260056.1:n.324+57del
NM_001363611.1:c.330+57del NP_001350540.1:n.330+57del
XM_005259999.2:c.324+57del XP_005260056.1:n.324+57del
NM_020428.4:c.330+57del MANE Select NP_065161.3:n.330+57del
NM_001145056.2:c.324+57del NP_001138528.1:n.324+57del
NM_001363611.2:c.330+57del NP_001350540.1:n.330+57del