Canonical Allele Identifier: CA2000561234

Gene: SDHD

Linked Data

• dbSNP Id: rs1865658878
• gnomAD v4: 11-112088040-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112088042_112088043del , CM000673.2:g.112088042_112088043del	GRCh38
NC_000011.9:g.111958766_111958767del , CM000673.1:g.111958766_111958767del	GRCh37
NC_000011.8:g.111463976_111463977del	NCBI36
NG_012337.2:g.6196_6197del
NG_033145.1:g.3757_3758del
NG_012337.3:g.6196_6197del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.169+69_169+70del	ENSP00000432946.2:n.169+69_169+70del
ENST00000534010.2:c.169+69_169+70del	ENSP00000433202.2:n.169+69_169+70del
ENST00000375549.8:c.169+69_169+70del MANE Select	ENSP00000364699.3:n.169+69_169+70del
ENST00000528021.6:c.169+69_169+70del	ENSP00000432465.1:n.169+69_169+70del
ENST00000640554.1:c.169+69_169+70del	ENSP00000491141.1:n.169+69_169+70del
ENST00000375549.7:c.169+69_169+70del	ENSP00000364699.3:n.169+69_169+70del
ENST00000525291.5:c.53-825_53-824del	ENSP00000436669.1:n.53-825_53-824del
ENST00000525987.5:n.174+69_174+70del
ENST00000526592.5:c.169+69_169+70del	ENSP00000432005.1:n.169+69_169+70del
ENST00000528021.5:c.169+69_169+70del	ENSP00000432465.1:n.169+69_169+70del
ENST00000528048.5:c.169+69_169+70del	ENSP00000436217.1:n.169+69_169+70del
ENST00000528182.5:c.169+69_169+70del	ENSP00000435475.1:n.169+69_169+70del
ENST00000530923.5:c.159+69_159+70del
ENST00000531744.5:c.169+69_169+70del	ENSP00000456957.1:n.169+69_169+70del
ENST00000532699.1:c.169+69_169+70del	ENSP00000456434.1:n.169+69_169+70del
ENST00000614349.4:c.169+69_169+70del	ENSP00000480666.1:n.169+69_169+70del
NM_001276503.1:c.169+69_169+70del	NP_001263432.1:n.169+69_169+70del
NM_001276504.1:c.53-825_53-824del	NP_001263433.1:n.53-825_53-824del
NM_001276506.1:c.169+69_169+70del	NP_001263435.1:n.169+69_169+70del
NM_003002.3:c.169+69_169+70del	NP_002993.1:n.169+69_169+70del
NR_077060.1:n.253+69_253+70del
NM_003002.4:c.169+69_169+70del MANE Select	NP_002993.1:n.169+69_169+70del
NM_001276503.2:c.169+69_169+70del	NP_001263432.1:n.169+69_169+70del
NM_001276504.2:c.53-825_53-824del	NP_001263433.1:n.53-825_53-824del
NM_001276506.2:c.169+69_169+70del	NP_001263435.1:n.169+69_169+70del
NR_077060.2:n.204+69_204+70del