Canonical Allele Identifier: CA2695215324

Gene: SDHD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112088961_112088970del , CM000673.2:g.112088961_112088970del	GRCh38
NC_000011.9:g.111959685_111959694del , CM000673.1:g.111959685_111959694del	GRCh37
NC_000011.8:g.111464895_111464904del	NCBI36
NG_012337.2:g.7115_7124del
NG_033145.1:g.2831_2840del
NG_012337.3:g.7115_7124del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.264_273del	ENSP00000432946.2:p.Cys88TrpfsTer19
ENST00000534010.2:c.264_273del	ENSP00000433202.2:p.Cys88TrpfsTer?
ENST00000375549.8:c.264_273del MANE Select	ENSP00000364699.3:p.Cys88TrpfsTer?
ENST00000528021.6:c.264_273del	ENSP00000432465.1:p.Cys88TrpfsTer?
ENST00000640554.1:c.*336_*345del	ENSP00000491141.1:n.*336_*345del
ENST00000375549.7:c.264_273del	ENSP00000364699.3:p.Cys88TrpfsTer?
ENST00000525291.5:c.147_156del	ENSP00000436669.1:p.Cys49TrpfsTer?
ENST00000525987.5:n.269_278del
ENST00000526592.5:c.264_273del	ENSP00000432005.1:p.Cys88TrpfsTer?
ENST00000528021.5:c.264_273del	ENSP00000432465.1:p.Cys88TrpfsTer?
ENST00000528048.5:c.169+988_169+997del	ENSP00000436217.1:n.169+988_169+997del
ENST00000528182.5:c.264_273del	ENSP00000435475.1:p.Cys88TrpfsTer20
ENST00000530923.5:c.254_263del
ENST00000531744.5:c.264_273del	ENSP00000456957.1:p.Cys88TrpfsTer20
ENST00000532699.1:c.264_273del	ENSP00000456434.1:p.Cys88TrpfsTer20
ENST00000534010.1:c.95_104del
ENST00000614349.4:c.264_273del	ENSP00000480666.1:p.Cys88TrpfsTer?
NM_001276503.1:c.169+988_169+997del	NP_001263432.1:n.169+988_169+997del
NM_001276504.1:c.147_156del	NP_001263433.1:p.Cys49TrpfsTer?
NM_001276506.1:c.264_273del	NP_001263435.1:p.Cys88TrpfsTer?
NM_003002.3:c.264_273del	NP_002993.1:p.Cys88TrpfsTer?
NR_077060.1:n.348_357del
NM_003002.4:c.264_273del MANE Select	NP_002993.1:p.Cys88TrpfsTer?
NM_001276503.2:c.169+988_169+997del	NP_001263432.1:n.169+988_169+997del
NM_001276504.2:c.147_156del	NP_001263433.1:p.Cys49TrpfsTer?
NM_001276506.2:c.264_273del	NP_001263435.1:p.Cys88TrpfsTer?
NR_077060.2:n.299_308del