Canonical Allele Identifier: CA924654963

Gene: ATP5F1C

Linked Data

• dbSNP Id: rs1836199652
• gnomAD v3: 10-7793994-C-CCTT
• gnomAD v4: 10-7793994-C-CCTT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.7793996_7793998dup , CM000672.2:g.7793996_7793998dup	GRCh38
NC_000010.10:g.7835959_7835961dup , CM000672.1:g.7835959_7835961dup	GRCh37
NC_000010.9:g.7875965_7875967dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356708.12:c.57-2125_57-2123dup MANE Select	ENSP00000349142.7:n.57-2125_57-2123dup
ENST00000335698.4:c.57-2125_57-2123dup	ENSP00000338568.4:n.57-2125_57-2123dup
ENST00000356708.11:c.57-2125_57-2123dup	ENSP00000349142.7:n.57-2125_57-2123dup
ENST00000460362.5:n.90-2125_90-2123dup
ENST00000460820.6:n.81-2125_81-2123dup
ENST00000462760.1:n.106-2125_106-2123dup
ENST00000465936.5:n.86-2125_86-2123dup
ENST00000472202.1:n.55-2125_55-2123dup
ENST00000493053.5:n.118-3051_118-3049dup
NM_001001973.1:c.57-2125_57-2123dup	NP_001001973.1:n.57-2125_57-2123dup
NM_005174.2:c.57-2125_57-2123dup	NP_005165.1:n.57-2125_57-2123dup
XM_011519490.1:c.-50-3051_-50-3049dup	XP_011517792.1:n.-50-3051_-50-3049dup
NM_001001973.2:c.57-2125_57-2123dup	NP_001001973.1:n.57-2125_57-2123dup
NM_001320886.1:c.-50-3051_-50-3049dup	NP_001307815.1:n.-50-3051_-50-3049dup
NM_005174.3:c.57-2125_57-2123dup	NP_005165.1:n.57-2125_57-2123dup
XM_017016290.1:c.-50-3051_-50-3049dup	XP_016871779.1:n.-50-3051_-50-3049dup
NM_001001973.3:c.57-2125_57-2123dup MANE Select	NP_001001973.1:n.57-2125_57-2123dup
NM_001320886.2:c.-50-3051_-50-3049dup	NP_001307815.1:n.-50-3051_-50-3049dup
NM_005174.4:c.57-2125_57-2123dup	NP_005165.1:n.57-2125_57-2123dup