Canonical Allele Identifier: CA1882821245

Gene: SARDH

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133730163_133730171delinsCGGTCACTG , CM000671.2:g.133730163_133730171delinsCGGTCACTG	GRCh38
NC_000009.11:g.136595285_136595293delinsCGGTCACTG , CM000671.1:g.136595285_136595293delinsCGGTCACTG	GRCh37
NC_000009.10:g.135585106_135585114delinsCGGTCACTG	NCBI36
NG_008987.1:g.14785_14793delinsCAGTGACCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439388.6:c.707_715delinsCAGTGACCG MANE Select	ENSP00000403084.1:p.Pro236=
ENST00000298628.6:c.707_715delinsCAGTGACCG	ENSP00000298628.5:p.Pro236=
ENST00000371867.5:c.440_448delinsCAGTGACCG	ENSP00000360933.1:p.Pro147=
ENST00000371872.8:c.707_715delinsCAGTGACCG	ENSP00000360938.4:p.Pro236=
ENST00000427237.6:c.707_715delinsCAGTGACCG	ENSP00000394210.2:p.Pro236=
ENST00000439388.5:c.707_715delinsCAGTGACCG	ENSP00000403084.1:p.Pro236=
ENST00000616662.4:c.707_715delinsCAGTGACCG	ENSP00000484683.1:p.Pro236=
NM_001134707.1:c.707_715delinsCAGTGACCG	NP_001128179.1:p.Pro236=
NM_007101.3:c.707_715delinsCAGTGACCG	NP_009032.2:p.Pro236=
XM_006716990.2:c.707_715delinsCAGTGACCG	XP_006717053.1:p.Pro236=
XM_011518333.1:c.707_715delinsCAGTGACCG	XP_011516635.1:p.Pro236=
XR_929726.1:n.874_882delinsCAGTGACCG
XR_929727.1:n.874_882delinsCAGTGACCG
XR_929728.1:n.874_882delinsCAGTGACCG
XM_017014367.1:c.707_715delinsCAGTGACCG	XP_016869856.1:p.Pro236=
XM_017014368.1:c.707_715delinsCAGTGACCG	XP_016869857.1:p.Pro236=
XR_001746213.1:n.1003_1011delinsCAGTGACCG
XR_001746214.1:n.2186_2194delinsCAGTGACCG
XR_001746215.1:n.1005_1013delinsCAGTGACCG
XR_001746216.1:n.1003_1011delinsCAGTGACCG
XR_001746217.1:n.1003_1011delinsCAGTGACCG
XR_001746218.1:n.1003_1011delinsCAGTGACCG
XR_929726.2:n.874_882delinsCAGTGACCG
NM_001134707.2:c.707_715delinsCAGTGACCG MANE Select	NP_001128179.1:p.Pro236=
NM_007101.4:c.707_715delinsCAGTGACCG	NP_009032.2:p.Pro236=