Canonical Allele Identifier: CA2175374170
Gene: MYEF2 HGNC NCBI
SLC24A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48134766_48134767delinsCA , CM000677.2:g.48134766_48134767delinsCA GRCh38
NC_000015.9:g.48426963_48426964delinsCA , CM000677.1:g.48426963_48426964delinsCA GRCh37
NC_000015.8:g.46214255_46214256delinsCA NCBI36
NG_011500.1:g.18795_18796delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000324324.12:c.*8141_*8142delinsTG (MYEF2) MANE Select ENSP00000316950.7:n.*8141_*8142delinsTG
ENST00000341459.8:c.490-118_490-117delinsCA (SLC24A5) MANE Select ENSP00000341550.3:n.490-118_490-117delinsCA
ENST00000324324.11:c.*8141_*8142delinsTG (MYEF2) ENSP00000316950.7:n.*8141_*8142delinsTG
ENST00000341459.7:c.490-118_490-117delinsCA (SLC24A5) ENSP00000341550.3:n.490-118_490-117delinsCA
ENST00000449382.2:c.310-118_310-117delinsCA (SLC24A5) ENSP00000389966.2:n.310-118_310-117delinsCA
ENST00000463289.1:n.250-118_250-117delinsCA (SLC24A5)
NM_205850.2:c.490-118_490-117delinsCA (SLC24A5) NP_995322.1:n.490-118_490-117delinsCA
XM_011521458.1:c.511-118_511-117delinsCA (SLC24A5) XP_011519760.1:n.511-118_511-117delinsCA
XM_005254425.4:c.*8296_*8297delinsTG (MYEF2) XP_005254482.2:n.*8296_*8297delinsTG
XM_017022079.1:c.244-118_244-117delinsCA (SLC24A5) XP_016877568.1:n.244-118_244-117delinsCA
XM_017022080.1:c.244-118_244-117delinsCA (SLC24A5) XP_016877569.1:n.244-118_244-117delinsCA
XM_017022285.1:c.*8296_*8297delinsTG (MYEF2) XP_016877774.1:n.*8296_*8297delinsTG
XM_017022286.1:c.*8296_*8297delinsTG (MYEF2) XP_016877775.1:n.*8296_*8297delinsTG
XM_017022287.1:c.*8296_*8297delinsTG (MYEF2) XP_016877776.1:n.*8296_*8297delinsTG
XM_017022291.1:c.*8296_*8297delinsTG (MYEF2) XP_016877780.1:n.*8296_*8297delinsTG
XM_017022292.1:c.*8296_*8297delinsTG (MYEF2) XP_016877781.1:n.*8296_*8297delinsTG
XM_024449901.1:c.151-118_151-117delinsCA (SLC24A5) XP_024305669.1:n.151-118_151-117delinsCA
NM_016132.5:c.*8141_*8142delinsTG (MYEF2) MANE Select NP_057216.3:n.*8141_*8142delinsTG
NM_001301210.2:c.*8141_*8142delinsTG (MYEF2) NP_001288139.2:n.*8141_*8142delinsTG
NM_205850.3:c.490-118_490-117delinsCA (SLC24A5) MANE Select NP_995322.1:n.490-118_490-117delinsCA