Canonical Allele Identifier: CA2692338762

Gene: SURF1

Linked Data

• gnomAD v4: 9-133352398-GTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133352400_133352401del , CM000671.2:g.133352400_133352401del	GRCh38
NC_000009.10:g.135209076_135209077del	NCBI36
NG_008477.1:g.9107_9108del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371974.8:c.751+46_751+47del MANE Select	ENSP00000361042.3:n.751+46_751+47del
ENST00000371974.7:c.751+46_751+47del	ENSP00000361042.3:n.751+46_751+47del
ENST00000437995.1:n.661+46_661+47del
ENST00000495952.5:n.741+46_741+47del
ENST00000615505.4:c.424+46_424+47del	ENSP00000482067.1:n.424+46_424+47del
NM_001280787.1:c.424+46_424+47del	NP_001267716.1:n.424+46_424+47del
NM_003172.3:c.751+46_751+47del	NP_003163.1:n.751+46_751+47del
XM_011518942.1:c.424+46_424+47del	XP_011517244.1:n.424+46_424+47del
NM_003172.4:c.751+46_751+47del MANE Select	NP_003163.1:n.751+46_751+47del