Canonical Allele Identifier: CA2512460772

Gene: SURF1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133352320_133352325del , CM000671.2:g.133352320_133352325del	GRCh38
NC_000009.10:g.135208996_135209001del	NCBI36
NG_008477.1:g.9184_9189del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371974.8:c.751+123_751+128del MANE Select	ENSP00000361042.3:n.751+123_751+128del
ENST00000371974.7:c.751+123_751+128del	ENSP00000361042.3:n.751+123_751+128del
ENST00000437995.1:n.661+123_661+128del
ENST00000495952.5:n.741+123_741+128del
ENST00000615505.4:c.424+123_424+128del	ENSP00000482067.1:n.424+123_424+128del
NM_001280787.1:c.424+123_424+128del	NP_001267716.1:n.424+123_424+128del
NM_003172.3:c.751+123_751+128del	NP_003163.1:n.751+123_751+128del
XM_011518942.1:c.424+123_424+128del	XP_011517244.1:n.424+123_424+128del
NM_003172.4:c.751+123_751+128del MANE Select	NP_003163.1:n.751+123_751+128del