Canonical Allele Identifier: CA2692339877

Gene: SURF1

Linked Data

• gnomAD v4: 9-133352835-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133352836_133352837del , CM000671.2:g.133352836_133352837del	GRCh38
NC_000009.10:g.135209512_135209513del	NCBI36
NG_008477.1:g.8670_8671del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371974.8:c.516-71_516-70del MANE Select	ENSP00000361042.3:n.516-71_516-70del
ENST00000371974.7:c.516-71_516-70del	ENSP00000361042.3:n.516-71_516-70del
ENST00000437995.1:n.462-107_462-106del
ENST00000495952.5:n.506-71_506-70del
ENST00000615505.4:c.189-71_189-70del	ENSP00000482067.1:n.189-71_189-70del
NM_001280787.1:c.189-71_189-70del	NP_001267716.1:n.189-71_189-70del
NM_003172.3:c.516-71_516-70del	NP_003163.1:n.516-71_516-70del
XM_011518942.1:c.189-71_189-70del	XP_011517244.1:n.189-71_189-70del
NM_003172.4:c.516-71_516-70del MANE Select	NP_003163.1:n.516-71_516-70del