Canonical Allele Identifier: CA2641640927

Gene: ATP5F1A

Linked Data

• gnomAD v4: 18-46086911-G-GCATTTTACTTTTTATTGTGGAAAATTTCAAATA

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46086916_46086917insTACTTTTTATTGTGGAAAATTTCAAATACATTT , CM000680.2:g.46086916_46086917insTACTTTTTATTGTGGAAAATTTCAAATACATTT	GRCh38
NC_000018.9:g.43666882_43666883insTACTTTTTATTGTGGAAAATTTCAAATACATTT , CM000680.1:g.43666882_43666883insTACTTTTTATTGTGGAAAATTTCAAATACATTT	GRCh37
NC_000018.8:g.41920880_41920881insTACTTTTTATTGTGGAAAATTTCAAATACATTT	NCBI36
NG_041769.1:g.22322_22323insTATTTGAAATTTTCCACAATAAAAAGTAAAATG
NG_041769.2:g.27322_27323insTATTTGAAATTTTCCACAATAAAAAGTAAAATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.1176+96_1176+97insTATTTGAAATTTTCCACAATAAAAAGTAAAATG MANE Select	ENSP00000381736.5:n.1176+96_1176+97insTATTTGAAATTTTCCACAATAAA...
ENST00000282050.6:c.1176+96_1176+97insTATTTGAAATTTTCCACAATAAAAAGTAAAATG	ENSP00000282050.2:n.1176+96_1176+97insTATTTGAAATTTTCCACAATAAA...
ENST00000398752.10:c.1176+96_1176+97insTATTTGAAATTTTCCACAATAAAAAGTAAAATG	ENSP00000381736.5:n.1176+96_1176+97insTATTTGAAATTTTCCACAATAAA...
ENST00000586523.1:n.1785_1786insTATTTGAAATTTTCCACAATAAAAAGTAAAATG
ENST00000586592.5:c.*1239+96_*1239+97insTATTTGAAATTTTCCACAATAAAAAGTAAAATG	ENSP00000466275.3:n.*1239+96_*1239+97insTATTTGAAATTTTCCACAATA...
ENST00000590156.5:c.*1072+96_*1072+97insTATTTGAAATTTTCCACAATAAAAAGTAAAATG	ENSP00000466309.1:n.*1072+96_*1072+97insTATTTGAAATTTTCCACAATA...
ENST00000590665.5:c.1110+96_1110+97insTATTTGAAATTTTCCACAATAAAAAGTAAAATG	ENSP00000467037.1:n.1110+96_1110+97insTATTTGAAATTTTCCACAATAAA...
ENST00000592364.5:c.*49+96_*49+97insTATTTGAAATTTTCCACAATAAAAAGTAAAATG	ENSP00000468618.1:n.*49+96_*49+97insTATTTGAAATTTTCCACAATAAAAA...
ENST00000593152.6:c.1026+96_1026+97insTATTTGAAATTTTCCACAATAAAAAGTAAAATG	ENSP00000465477.2:n.1026+96_1026+97insTATTTGAAATTTTCCACAATAAA...
NM_001001935.2:c.1026+96_1026+97insTATTTGAAATTTTCCACAATAAAAAGTAAAATG	NP_001001935.1:n.1026+96_1026+97insTATTTGAAATTTTCCACAATAAAAAG...
NM_001001937.1:c.1176+96_1176+97insTATTTGAAATTTTCCACAATAAAAAGTAAAATG	NP_001001937.1:n.1176+96_1176+97insTATTTGAAATTTTCCACAATAAAAAG...
NM_001257334.1:c.1110+96_1110+97insTATTTGAAATTTTCCACAATAAAAAGTAAAATG	NP_001244263.1:n.1110+96_1110+97insTATTTGAAATTTTCCACAATAAAAAG...
NM_001257335.1:c.1026+96_1026+97insTATTTGAAATTTTCCACAATAAAAAGTAAAATG	NP_001244264.1:n.1026+96_1026+97insTATTTGAAATTTTCCACAATAAAAAG...
NM_004046.5:c.1176+96_1176+97insTATTTGAAATTTTCCACAATAAAAAGTAAAATG	NP_004037.1:n.1176+96_1176+97insTATTTGAAATTTTCCACAATAAAAAGTAA...
XM_011526018.1:c.1026+96_1026+97insTATTTGAAATTTTCCACAATAAAAAGTAAAATG	XP_011524320.1:n.1026+96_1026+97insTATTTGAAATTTTCCACAATAAAAAG...
XM_017025789.1:c.1176+96_1176+97insTATTTGAAATTTTCCACAATAAAAAGTAAAATG	XP_016881278.1:n.1176+96_1176+97insTATTTGAAATTTTCCACAATAAAAAG...
NM_004046.6:c.1176+96_1176+97insTATTTGAAATTTTCCACAATAAAAAGTAAAATG MANE Select	NP_004037.1:n.1176+96_1176+97insTATTTGAAATTTTCCACAATAAAAAGTAA...
NM_001001935.3:c.1026+96_1026+97insTATTTGAAATTTTCCACAATAAAAAGTAAAATG	NP_001001935.1:n.1026+96_1026+97insTATTTGAAATTTTCCACAATAAAAAG...
NM_001257334.2:c.1110+96_1110+97insTATTTGAAATTTTCCACAATAAAAAGTAAAATG	NP_001244263.1:n.1110+96_1110+97insTATTTGAAATTTTCCACAATAAAAAG...
NM_001001937.2:c.1176+96_1176+97insTATTTGAAATTTTCCACAATAAAAAGTAAAATG	NP_001001937.1:n.1176+96_1176+97insTATTTGAAATTTTCCACAATAAAAAG...
NM_001257335.2:c.1026+96_1026+97insTATTTGAAATTTTCCACAATAAAAAGTAAAATG	NP_001244264.1:n.1026+96_1026+97insTATTTGAAATTTTCCACAATAAAAAG...