Canonical Allele Identifier: CA2576621665
Gene: SLC44A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10631257_10631267del , CM000681.2:g.10631257_10631267del GRCh38
NC_000019.9:g.10741933_10741943del , CM000681.1:g.10741933_10741943del GRCh37
NC_000019.8:g.10602933_10602943del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000335757.10:c.331-18_331-8del MANE Select ENSP00000336888.4:n.331-18_331-8del
ENST00000335757.9:c.331-18_331-8del ENSP00000336888.4:n.331-18_331-8del
ENST00000407327.8:c.325-18_325-8del ENSP00000385135.3:n.325-18_325-8del
ENST00000586078.5:c.331-18_331-8del ENSP00000466664.1:n.331-18_331-8del
ENST00000588409.1:c.245+3253_245+3263del ENSP00000468070.1:n.245+3253_245+3263del
ENST00000588465.5:n.240-18_240-8del
ENST00000588688.5:c.172-18_172-8del ENSP00000467552.1:n.172-18_172-8del
ENST00000590382.5:c.166-18_166-8del ENSP00000468691.1:n.166-18_166-8del
ENST00000590857.5:c.-219-18_-219-8del ENSP00000465547.1:n.-219-18_-219-8del
ENST00000592293.5:c.*128-18_*128-8del ENSP00000466612.1:n.*128-18_*128-8del
NM_001145056.1:c.325-18_325-8del NP_001138528.1:n.325-18_325-8del
NM_020428.3:c.331-18_331-8del NP_065161.3:n.331-18_331-8del
XM_005259997.1:c.331-18_331-8del XP_005260054.1:n.331-18_331-8del
XM_005259999.1:c.325-18_325-8del XP_005260056.1:n.325-18_325-8del
NM_001363611.1:c.331-18_331-8del NP_001350540.1:n.331-18_331-8del
XM_005259999.2:c.325-18_325-8del XP_005260056.1:n.325-18_325-8del
NM_020428.4:c.331-18_331-8del MANE Select NP_065161.3:n.331-18_331-8del
NM_001145056.2:c.325-18_325-8del NP_001138528.1:n.325-18_325-8del
NM_001363611.2:c.331-18_331-8del NP_001350540.1:n.331-18_331-8del