Canonical Allele Identifier: CA2695220131

Gene: MYEF2 SLC24A5

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48134892_48134893del , CM000677.2:g.48134892_48134893del	GRCh38
NC_000015.9:g.48427089_48427090del , CM000677.1:g.48427089_48427090del	GRCh37
NC_000015.8:g.46214381_46214382del	NCBI36
NG_011500.1:g.18921_18922del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324324.12:c.*8017_*8018del (MYEF2) MANE Select	ENSP00000316950.7:n.*8017_*8018del
ENST00000341459.8:c.498_499del (SLC24A5) MANE Select	ENSP00000341550.3:p.Leu167IlefsTer15
ENST00000324324.11:c.*8017_*8018del (MYEF2)	ENSP00000316950.7:n.*8017_*8018del
ENST00000341459.7:c.498_499del (SLC24A5)	ENSP00000341550.3:p.Leu167IlefsTer15
ENST00000449382.2:c.318_319del (SLC24A5)	ENSP00000389966.2:p.Leu107IlefsTer15
ENST00000463289.1:n.258_259del (SLC24A5)
NM_205850.2:c.498_499del (SLC24A5)	NP_995322.1:p.Leu167IlefsTer15
XM_011521458.1:c.519_520del (SLC24A5)	XP_011519760.1:p.Leu174IlefsTer15
XM_005254425.4:c.*8172_*8173del (MYEF2)	XP_005254482.2:n.*8172_*8173del
XM_017022079.1:c.252_253del (SLC24A5)	XP_016877568.1:p.Leu85IlefsTer15
XM_017022080.1:c.252_253del (SLC24A5)	XP_016877569.1:p.Leu85IlefsTer15
XM_017022285.1:c.*8172_*8173del (MYEF2)	XP_016877774.1:n.*8172_*8173del
XM_017022286.1:c.*8172_*8173del (MYEF2)	XP_016877775.1:n.*8172_*8173del
XM_017022287.1:c.*8172_*8173del (MYEF2)	XP_016877776.1:n.*8172_*8173del
XM_017022291.1:c.*8172_*8173del (MYEF2)	XP_016877780.1:n.*8172_*8173del
XM_017022292.1:c.*8172_*8173del (MYEF2)	XP_016877781.1:n.*8172_*8173del
XM_024449901.1:c.159_160del (SLC24A5)	XP_024305669.1:p.Leu54IlefsTer15
NM_016132.5:c.*8017_*8018del (MYEF2) MANE Select	NP_057216.3:n.*8017_*8018del
NM_001301210.2:c.*8017_*8018del (MYEF2)	NP_001288139.2:n.*8017_*8018del
NM_205850.3:c.498_499del (SLC24A5) MANE Select	NP_995322.1:p.Leu167IlefsTer15