Canonical Allele Identifier: CA860707633

Gene: SURF1

Linked Data

• dbSNP Id: rs1376669776 ; rs2130006223
• gnomAD v3: 9-133352341-CAT-C
• gnomAD v4: 9-133352341-CAT-C
• MyVariant Identifiers: chr9:g.133352342_133352343del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133352342_133352343del , CM000671.2:g.133352342_133352343del	GRCh38
NC_000009.10:g.135209018_135209019del	NCBI36
NG_008477.1:g.9164_9165del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371974.8:c.751+103_751+104del MANE Select	ENSP00000361042.3:n.751+103_751+104del
ENST00000371974.7:c.751+103_751+104del	ENSP00000361042.3:n.751+103_751+104del
ENST00000437995.1:n.661+103_661+104del
ENST00000495952.5:n.741+103_741+104del
ENST00000615505.4:c.424+103_424+104del	ENSP00000482067.1:n.424+103_424+104del
NM_001280787.1:c.424+103_424+104del	NP_001267716.1:n.424+103_424+104del
NM_003172.3:c.751+103_751+104del	NP_003163.1:n.751+103_751+104del
XM_011518942.1:c.424+103_424+104del	XP_011517244.1:n.424+103_424+104del
NM_003172.4:c.751+103_751+104del MANE Select	NP_003163.1:n.751+103_751+104del