Canonical Allele Identifier: CA1882633908

Gene: SURF1

Linked Data

• dbSNP Id: rs1836446929
• gnomAD v4: 9-133352389-GGAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133352391_133352393del , CM000671.2:g.133352391_133352393del	GRCh38
NC_000009.10:g.135209067_135209069del	NCBI36
NG_008477.1:g.9115_9117del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371974.8:c.751+54_751+56del MANE Select	ENSP00000361042.3:n.751+54_751+56del
ENST00000371974.7:c.751+54_751+56del	ENSP00000361042.3:n.751+54_751+56del
ENST00000437995.1:n.661+54_661+56del
ENST00000495952.5:n.741+54_741+56del
ENST00000615505.4:c.424+54_424+56del	ENSP00000482067.1:n.424+54_424+56del
NM_001280787.1:c.424+54_424+56del	NP_001267716.1:n.424+54_424+56del
NM_003172.3:c.751+54_751+56del	NP_003163.1:n.751+54_751+56del
XM_011518942.1:c.424+54_424+56del	XP_011517244.1:n.424+54_424+56del
NM_003172.4:c.751+54_751+56del MANE Select	NP_003163.1:n.751+54_751+56del