Canonical Allele Identifier: CA860708629

Gene: SURF1

Linked Data

• dbSNP Id: rs1377342274
• gnomAD v3: 9-133352929-CCT-C
• gnomAD v4: 9-133352929-CCT-C
• MyVariant Identifiers: chr9:g.133352930_133352931del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133352934_133352935del , CM000671.2:g.133352934_133352935del	GRCh38
NC_000009.10:g.135209610_135209611del	NCBI36
NG_008477.1:g.8576_8577del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371974.8:c.516-165_516-164del MANE Select	ENSP00000361042.3:n.516-165_516-164del
ENST00000371974.7:c.516-165_516-164del	ENSP00000361042.3:n.516-165_516-164del
ENST00000437995.1:n.462-201_462-200del
ENST00000495952.5:n.506-165_506-164del
ENST00000615505.4:c.189-165_189-164del	ENSP00000482067.1:n.189-165_189-164del
NM_001280787.1:c.189-165_189-164del	NP_001267716.1:n.189-165_189-164del
NM_003172.3:c.516-165_516-164del	NP_003163.1:n.516-165_516-164del
XM_011518942.1:c.189-165_189-164del	XP_011517244.1:n.189-165_189-164del
NM_003172.4:c.516-165_516-164del MANE Select	NP_003163.1:n.516-165_516-164del