Canonical Allele Identifier: CA2692338618

Gene: SURF1

Linked Data

• gnomAD v4: 9-133352342-ATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133352345_133352346del , CM000671.2:g.133352345_133352346del	GRCh38
NC_000009.10:g.135209021_135209022del	NCBI36
NG_008477.1:g.9163_9164del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371974.8:c.751+102_751+103del MANE Select	ENSP00000361042.3:n.751+102_751+103del
ENST00000371974.7:c.751+102_751+103del	ENSP00000361042.3:n.751+102_751+103del
ENST00000437995.1:n.661+102_661+103del
ENST00000495952.5:n.741+102_741+103del
ENST00000615505.4:c.424+102_424+103del	ENSP00000482067.1:n.424+102_424+103del
NM_001280787.1:c.424+102_424+103del	NP_001267716.1:n.424+102_424+103del
NM_003172.3:c.751+102_751+103del	NP_003163.1:n.751+102_751+103del
XM_011518942.1:c.424+102_424+103del	XP_011517244.1:n.424+102_424+103del
NM_003172.4:c.751+102_751+103del MANE Select	NP_003163.1:n.751+102_751+103del