Canonical Allele Identifier: CA2615985360

Gene: SDHD

Linked Data

• gnomAD v4: 11-112088917-G-GTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112088920_112088921dup , CM000673.2:g.112088920_112088921dup	GRCh38
NC_000011.9:g.111959644_111959645dup , CM000673.1:g.111959644_111959645dup	GRCh37
NC_000011.8:g.111464854_111464855dup	NCBI36
NG_012337.2:g.7074_7075dup
NG_033145.1:g.2880_2881dup
NG_012337.3:g.7074_7075dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000530923.6:c.223_224dup	ENSP00000432946.2:p.Leu75PhefsTer12
ENST00000534010.2:c.223_224dup	ENSP00000433202.2:p.Leu75PhefsTer12
ENST00000375549.8:c.223_224dup MANE Select	ENSP00000364699.3:p.Leu75PhefsTer12
ENST00000528021.6:c.223_224dup	ENSP00000432465.1:p.Leu75PhefsTer12
ENST00000640554.1:c.*295_*296dup	ENSP00000491141.1:n.*295_*296dup
ENST00000375549.7:c.223_224dup	ENSP00000364699.3:p.Leu75PhefsTer12
ENST00000525291.5:c.106_107dup	ENSP00000436669.1:p.Leu36PhefsTer12
ENST00000525987.5:n.228_229dup
ENST00000526592.5:c.223_224dup	ENSP00000432005.1:p.Leu75PhefsTer12
ENST00000528021.5:c.223_224dup	ENSP00000432465.1:p.Leu75PhefsTer12
ENST00000528048.5:c.169+947_169+948dup	ENSP00000436217.1:n.169+947_169+948dup
ENST00000528182.5:c.223_224dup	ENSP00000435475.1:p.Leu75PhefsTer12
ENST00000530923.5:c.213_214dup
ENST00000531744.5:c.223_224dup	ENSP00000456957.1:p.Leu75PhefsTer12
ENST00000532699.1:c.223_224dup	ENSP00000456434.1:p.Leu75PhefsTer12
ENST00000534010.1:c.54_55dup
ENST00000614349.4:c.223_224dup	ENSP00000480666.1:p.Leu75PhefsTer12
NM_001276503.1:c.169+947_169+948dup	NP_001263432.1:n.169+947_169+948dup
NM_001276504.1:c.106_107dup	NP_001263433.1:p.Leu36PhefsTer12
NM_001276506.1:c.223_224dup	NP_001263435.1:p.Leu75PhefsTer12
NM_003002.3:c.223_224dup	NP_002993.1:p.Leu75PhefsTer12
NR_077060.1:n.307_308dup
NM_003002.4:c.223_224dup MANE Select	NP_002993.1:p.Leu75PhefsTer12
NM_001276503.2:c.169+947_169+948dup	NP_001263432.1:n.169+947_169+948dup
NM_001276504.2:c.106_107dup	NP_001263433.1:p.Leu36PhefsTer12
NM_001276506.2:c.223_224dup	NP_001263435.1:p.Leu75PhefsTer12
NR_077060.2:n.258_259dup