Canonical Allele Identifier: CA2692338822

Gene: SURF1

Linked Data

• gnomAD v4: 9-133352421-C-CGA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133352424_133352425dup , CM000671.2:g.133352424_133352425dup	GRCh38
NC_000009.10:g.135209100_135209101dup	NCBI36
NG_008477.1:g.9084_9085dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371974.8:c.751+23_751+24dup MANE Select	ENSP00000361042.3:n.751+23_751+24dup
ENST00000371974.7:c.751+23_751+24dup	ENSP00000361042.3:n.751+23_751+24dup
ENST00000437995.1:n.661+23_661+24dup
ENST00000495952.5:n.741+23_741+24dup
ENST00000615505.4:c.424+23_424+24dup	ENSP00000482067.1:n.424+23_424+24dup
NM_001280787.1:c.424+23_424+24dup	NP_001267716.1:n.424+23_424+24dup
NM_003172.3:c.751+23_751+24dup	NP_003163.1:n.751+23_751+24dup
XM_011518942.1:c.424+23_424+24dup	XP_011517244.1:n.424+23_424+24dup
NM_003172.4:c.751+23_751+24dup MANE Select	NP_003163.1:n.751+23_751+24dup