Canonical Allele Identifier: CA1882634205
Gene: SURF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352554_133352565delinsGCTGCCTGGTTT , CM000671.2:g.133352554_133352565delinsGCTGCCTGGTTT GRCh38
NC_000009.10:g.135209230_135209241delinsGCTGCCTGGTTT NCBI36
NG_008477.1:g.8942_8953delinsAAACCAGGCAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.632_643delinsAAACCAGGCAGC MANE Select ENSP00000361042.3:p.Glu211=
ENST00000371974.7:c.632_643delinsAAACCAGGCAGC ENSP00000361042.3:p.Glu211=
ENST00000437995.1:n.542_553delinsAAACCAGGCAGC
ENST00000495952.5:n.622_633delinsAAACCAGGCAGC
ENST00000615505.4:c.305_316delinsAAACCAGGCAGC ENSP00000482067.1:p.Glu102=
NM_001280787.1:c.305_316delinsAAACCAGGCAGC NP_001267716.1:p.Glu102=
NM_003172.3:c.632_643delinsAAACCAGGCAGC NP_003163.1:p.Glu211=
XM_011518942.1:c.305_316delinsAAACCAGGCAGC XP_011517244.1:p.Glu102=
NM_003172.4:c.632_643delinsAAACCAGGCAGC MANE Select NP_003163.1:p.Glu211=