Canonical Allele Identifier: CA016671
Gene: SDHD HGNC NCBI

Linked Data

dbSNP Id: rs387906358

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112088888_112088889del , CM000673.2:g.112088888_112088889del GRCh38
NC_000011.9:g.111959612_111959613del , CM000673.1:g.111959612_111959613del GRCh37
NC_000011.8:g.111464822_111464823del NCBI36
NG_012337.2:g.7042_7043del
NG_033145.1:g.2914_2915del
NG_012337.3:g.7042_7043del

Transcript Alleles

HGVS Amino-acid change
ENST00000530923.6:c.191_192del ENSP00000432946.2:p.Leu64ProfsTer4
ENST00000534010.2:c.191_192del ENSP00000433202.2:p.Leu64ProfsTer4
ENST00000375549.8:c.191_192del MANE Select ENSP00000364699.3:p.Leu64ProfsTer4
ENST00000528021.6:c.191_192del ENSP00000432465.1:p.Leu64ProfsTer4
ENST00000640554.1:c.*263_*264del ENSP00000491141.1:n.*263_*264del
ENST00000375549.7:c.191_192del ENSP00000364699.3:p.Leu64ProfsTer4
ENST00000525291.5:c.74_75del ENSP00000436669.1:p.Leu25ProfsTer4
ENST00000525987.5:n.196_197del
ENST00000526592.5:c.191_192del ENSP00000432005.1:p.Leu64ProfsTer4
ENST00000528021.5:c.191_192del ENSP00000432465.1:p.Leu64ProfsTer4
ENST00000528048.5:c.169+915_169+916del ENSP00000436217.1:n.169+915_169+916del
ENST00000528182.5:c.191_192del ENSP00000435475.1:p.Leu64ProfsTer4
ENST00000530923.5:c.181_182del
ENST00000531744.5:c.191_192del ENSP00000456957.1:p.Leu64ProfsTer4
ENST00000532699.1:c.191_192del ENSP00000456434.1:p.Leu64ProfsTer4
ENST00000534010.1:c.22_23del
ENST00000614349.4:c.191_192del ENSP00000480666.1:p.Leu64ProfsTer4
NM_001276503.1:c.169+915_169+916del NP_001263432.1:n.169+915_169+916del
NM_001276504.1:c.74_75del NP_001263433.1:p.Leu25ProfsTer4
NM_001276506.1:c.191_192del NP_001263435.1:p.Leu64ProfsTer4
NM_003002.3:c.191_192del NP_002993.1:p.Leu64ProfsTer4
NR_077060.1:n.275_276del
NM_003002.4:c.191_192del MANE Select NP_002993.1:p.Leu64ProfsTer4
NM_001276503.2:c.169+915_169+916del NP_001263432.1:n.169+915_169+916del
NM_001276504.2:c.74_75del NP_001263433.1:p.Leu25ProfsTer4
NM_001276506.2:c.191_192del NP_001263435.1:p.Leu64ProfsTer4
NR_077060.2:n.226_227del