Canonical Allele Identifier: CA2175374227
Gene: MYEF2 HGNC NCBI
SLC24A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48134889_48134897delinsAACACTATC , CM000677.2:g.48134889_48134897delinsAACACTATC GRCh38
NC_000015.9:g.48427086_48427094delinsAACACTATC , CM000677.1:g.48427086_48427094delinsAACACTATC GRCh37
NC_000015.8:g.46214378_46214386delinsAACACTATC NCBI36
NG_011500.1:g.18918_18926delinsAACACTATC

Transcript Alleles

HGVS Amino-acid Change
ENST00000324324.12:c.*8011_*8019delinsGATAGTGTT (MYEF2) MANE Select ENSP00000316950.7:n.*8011_*8019delinsGATAGTGTT
ENST00000341459.8:c.495_503delinsAACACTATC (SLC24A5) MANE Select ENSP00000341550.3:p.Ser165=
ENST00000324324.11:c.*8011_*8019delinsGATAGTGTT (MYEF2) ENSP00000316950.7:n.*8011_*8019delinsGATAGTGTT
ENST00000341459.7:c.495_503delinsAACACTATC (SLC24A5) ENSP00000341550.3:p.Ser165=
ENST00000449382.2:c.315_323delinsAACACTATC (SLC24A5) ENSP00000389966.2:p.Ser105=
ENST00000463289.1:n.255_263delinsAACACTATC (SLC24A5)
NM_205850.2:c.495_503delinsAACACTATC (SLC24A5) NP_995322.1:p.Ser165=
XM_011521458.1:c.516_524delinsAACACTATC (SLC24A5) XP_011519760.1:p.Ser172=
XM_005254425.4:c.*8166_*8174delinsGATAGTGTT (MYEF2) XP_005254482.2:n.*8166_*8174delinsGATAGTGTT
XM_017022079.1:c.249_257delinsAACACTATC (SLC24A5) XP_016877568.1:p.Ser83=
XM_017022080.1:c.249_257delinsAACACTATC (SLC24A5) XP_016877569.1:p.Ser83=
XM_017022285.1:c.*8166_*8174delinsGATAGTGTT (MYEF2) XP_016877774.1:n.*8166_*8174delinsGATAGTGTT
XM_017022286.1:c.*8166_*8174delinsGATAGTGTT (MYEF2) XP_016877775.1:n.*8166_*8174delinsGATAGTGTT
XM_017022287.1:c.*8166_*8174delinsGATAGTGTT (MYEF2) XP_016877776.1:n.*8166_*8174delinsGATAGTGTT
XM_017022291.1:c.*8166_*8174delinsGATAGTGTT (MYEF2) XP_016877780.1:n.*8166_*8174delinsGATAGTGTT
XM_017022292.1:c.*8166_*8174delinsGATAGTGTT (MYEF2) XP_016877781.1:n.*8166_*8174delinsGATAGTGTT
XM_024449901.1:c.156_164delinsAACACTATC (SLC24A5) XP_024305669.1:p.Ser52=
NM_016132.5:c.*8011_*8019delinsGATAGTGTT (MYEF2) MANE Select NP_057216.3:n.*8011_*8019delinsGATAGTGTT
NM_001301210.2:c.*8011_*8019delinsGATAGTGTT (MYEF2) NP_001288139.2:n.*8011_*8019delinsGATAGTGTT
NM_205850.3:c.495_503delinsAACACTATC (SLC24A5) MANE Select NP_995322.1:p.Ser165=