Canonical Allele Identifier: CA2692339962

Gene: SURF1

Linked Data

• gnomAD v4: 9-133352868-AAGGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133352869_133352872del , CM000671.2:g.133352869_133352872del	GRCh38
NC_000009.10:g.135209545_135209548del	NCBI36
NG_008477.1:g.8635_8638del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371974.8:c.516-106_516-103del MANE Select	ENSP00000361042.3:n.516-106_516-103del
ENST00000371974.7:c.516-106_516-103del	ENSP00000361042.3:n.516-106_516-103del
ENST00000437995.1:n.462-142_462-139del
ENST00000495952.5:n.506-106_506-103del
ENST00000615505.4:c.189-106_189-103del	ENSP00000482067.1:n.189-106_189-103del
NM_001280787.1:c.189-106_189-103del	NP_001267716.1:n.189-106_189-103del
NM_003172.3:c.516-106_516-103del	NP_003163.1:n.516-106_516-103del
XM_011518942.1:c.189-106_189-103del	XP_011517244.1:n.189-106_189-103del
NM_003172.4:c.516-106_516-103del MANE Select	NP_003163.1:n.516-106_516-103del