Canonical Allele Identifier: CA2175374160
Gene: MYEF2 HGNC NCBI
SLC24A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48134751_48134752delinsAT , CM000677.2:g.48134751_48134752delinsAT GRCh38
NC_000015.9:g.48426948_48426949delinsAT , CM000677.1:g.48426948_48426949delinsAT GRCh37
NC_000015.8:g.46214240_46214241delinsAT NCBI36
NG_011500.1:g.18780_18781delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000324324.12:c.*8156_*8157delinsAT (MYEF2) MANE Select ENSP00000316950.7:n.*8156_*8157delinsAT
ENST00000341459.8:c.490-133_490-132delinsAT (SLC24A5) MANE Select ENSP00000341550.3:n.490-133_490-132delinsAT
ENST00000324324.11:c.*8156_*8157delinsAT (MYEF2) ENSP00000316950.7:n.*8156_*8157delinsAT
ENST00000341459.7:c.490-133_490-132delinsAT (SLC24A5) ENSP00000341550.3:n.490-133_490-132delinsAT
ENST00000449382.2:c.310-133_310-132delinsAT (SLC24A5) ENSP00000389966.2:n.310-133_310-132delinsAT
ENST00000463289.1:n.250-133_250-132delinsAT (SLC24A5)
NM_205850.2:c.490-133_490-132delinsAT (SLC24A5) NP_995322.1:n.490-133_490-132delinsAT
XM_011521458.1:c.511-133_511-132delinsAT (SLC24A5) XP_011519760.1:n.511-133_511-132delinsAT
XM_005254425.4:c.*8311_*8312delinsAT (MYEF2) XP_005254482.2:n.*8311_*8312delinsAT
XM_017022079.1:c.244-133_244-132delinsAT (SLC24A5) XP_016877568.1:n.244-133_244-132delinsAT
XM_017022080.1:c.244-133_244-132delinsAT (SLC24A5) XP_016877569.1:n.244-133_244-132delinsAT
XM_017022285.1:c.*8311_*8312delinsAT (MYEF2) XP_016877774.1:n.*8311_*8312delinsAT
XM_017022286.1:c.*8311_*8312delinsAT (MYEF2) XP_016877775.1:n.*8311_*8312delinsAT
XM_017022287.1:c.*8311_*8312delinsAT (MYEF2) XP_016877776.1:n.*8311_*8312delinsAT
XM_017022291.1:c.*8311_*8312delinsAT (MYEF2) XP_016877780.1:n.*8311_*8312delinsAT
XM_017022292.1:c.*8311_*8312delinsAT (MYEF2) XP_016877781.1:n.*8311_*8312delinsAT
XM_024449901.1:c.151-133_151-132delinsAT (SLC24A5) XP_024305669.1:n.151-133_151-132delinsAT
NM_016132.5:c.*8156_*8157delinsAT (MYEF2) MANE Select NP_057216.3:n.*8156_*8157delinsAT
NM_001301210.2:c.*8156_*8157delinsAT (MYEF2) NP_001288139.2:n.*8156_*8157delinsAT
NM_205850.3:c.490-133_490-132delinsAT (SLC24A5) MANE Select NP_995322.1:n.490-133_490-132delinsAT