Canonical Allele Identifier: CA779784147

Gene: ATP5F1A

Linked Data

• dbSNP Id: rs1291709955
• gnomAD v3: 18-46086937-ATTAG-A
• gnomAD v4: 18-46086937-ATTAG-A
• MyVariant Identifiers: chr18:g.43666904_43666907del (hg19) ; chr18:g.46086938_46086941del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46086939_46086942del , CM000680.2:g.46086939_46086942del	GRCh38
NC_000018.9:g.43666905_43666908del , CM000680.1:g.43666905_43666908del	GRCh37
NC_000018.8:g.41920903_41920906del	NCBI36
NG_041769.1:g.22293_22296del
NG_041769.2:g.27293_27296del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.1176+67_1176+70del MANE Select	ENSP00000381736.5:n.1176+67_1176+70del
ENST00000282050.6:c.1176+67_1176+70del	ENSP00000282050.2:n.1176+67_1176+70del
ENST00000398752.10:c.1176+67_1176+70del	ENSP00000381736.5:n.1176+67_1176+70del
ENST00000586523.1:n.1756_1759del
ENST00000586592.5:c.*1239+67_*1239+70del	ENSP00000466275.3:n.*1239+67_*1239+70del
ENST00000590156.5:c.*1072+67_*1072+70del	ENSP00000466309.1:n.*1072+67_*1072+70del
ENST00000590665.5:c.1110+67_1110+70del	ENSP00000467037.1:n.1110+67_1110+70del
ENST00000592364.5:c.*49+67_*49+70del	ENSP00000468618.1:n.*49+67_*49+70del
ENST00000593152.6:c.1026+67_1026+70del	ENSP00000465477.2:n.1026+67_1026+70del
NM_001001935.2:c.1026+67_1026+70del	NP_001001935.1:n.1026+67_1026+70del
NM_001001937.1:c.1176+67_1176+70del	NP_001001937.1:n.1176+67_1176+70del
NM_001257334.1:c.1110+67_1110+70del	NP_001244263.1:n.1110+67_1110+70del
NM_001257335.1:c.1026+67_1026+70del	NP_001244264.1:n.1026+67_1026+70del
NM_004046.5:c.1176+67_1176+70del	NP_004037.1:n.1176+67_1176+70del
XM_011526018.1:c.1026+67_1026+70del	XP_011524320.1:n.1026+67_1026+70del
XM_017025789.1:c.1176+67_1176+70del	XP_016881278.1:n.1176+67_1176+70del
NM_004046.6:c.1176+67_1176+70del MANE Select	NP_004037.1:n.1176+67_1176+70del
NM_001001935.3:c.1026+67_1026+70del	NP_001001935.1:n.1026+67_1026+70del
NM_001257334.2:c.1110+67_1110+70del	NP_001244263.1:n.1110+67_1110+70del
NM_001001937.2:c.1176+67_1176+70del	NP_001001937.1:n.1176+67_1176+70del
NM_001257335.2:c.1026+67_1026+70del	NP_001244264.1:n.1026+67_1026+70del