Canonical Allele Identifier: CA2739265145
Gene: SURF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2831733
ClinVar RCV Id: RCV003621003

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352606_133352609del , CM000671.2:g.133352606_133352609del GRCh38
NC_000009.10:g.135209282_135209285del NCBI36
NG_008477.1:g.8900_8903del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.590_593del
ENST00000371974.7:c.590_593del
ENST00000437995.1:n.500_503del
ENST00000495952.5:n.580_583del
ENST00000615505.4:c.263_266del
NM_001280787.1:c.263_266del
NM_003172.3:c.590_593del
XM_011518942.1:c.263_266del
NM_003172.4:c.590_593del