Canonical Allele Identifier: CA1882821035
Gene: SARDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133729768_133729777delinsAATCCCCTCG , CM000671.2:g.133729768_133729777delinsAATCCCCTCG GRCh38
NC_000009.11:g.136594890_136594899delinsAATCCCCTCG , CM000671.1:g.136594890_136594899delinsAATCCCCTCG GRCh37
NC_000009.10:g.135584711_135584720delinsAATCCCCTCG NCBI36
NG_008987.1:g.15179_15188delinsCGAGGGGATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000439388.6:c.903_912delinsCGAGGGGATT MANE Select ENSP00000403084.1:p.Ile301=
ENST00000298628.6:c.903_912delinsCGAGGGGATT ENSP00000298628.5:p.Ile301=
ENST00000371867.5:c.636_645delinsCGAGGGGATT ENSP00000360933.1:p.Ile212=
ENST00000371872.8:c.903_912delinsCGAGGGGATT ENSP00000360938.4:p.Ile301=
ENST00000422262.6:c.63_72delinsCGAGGGGATT ENSP00000415537.3:p.Ile21=
ENST00000427237.6:c.903_912delinsCGAGGGGATT ENSP00000394210.2:p.Ile301=
ENST00000439388.5:c.903_912delinsCGAGGGGATT ENSP00000403084.1:p.Ile301=
ENST00000616662.4:c.903_912delinsCGAGGGGATT ENSP00000484683.1:p.Ile301=
NM_001134707.1:c.903_912delinsCGAGGGGATT NP_001128179.1:p.Ile301=
NM_007101.3:c.903_912delinsCGAGGGGATT NP_009032.2:p.Ile301=
XM_006716990.2:c.903_912delinsCGAGGGGATT XP_006717053.1:p.Ile301=
XM_011518333.1:c.903_912delinsCGAGGGGATT XP_011516635.1:p.Ile301=
XR_929726.1:n.1070_1079delinsCGAGGGGATT
XR_929727.1:n.1070_1079delinsCGAGGGGATT
XR_929728.1:n.1070_1079delinsCGAGGGGATT
XM_017014367.1:c.903_912delinsCGAGGGGATT XP_016869856.1:p.Ile301=
XM_017014368.1:c.903_912delinsCGAGGGGATT XP_016869857.1:p.Ile301=
XR_001746213.1:n.1199_1208delinsCGAGGGGATT
XR_001746214.1:n.2382_2391delinsCGAGGGGATT
XR_001746215.1:n.1201_1210delinsCGAGGGGATT
XR_001746216.1:n.1199_1208delinsCGAGGGGATT
XR_001746217.1:n.1199_1208delinsCGAGGGGATT
XR_001746218.1:n.1199_1208delinsCGAGGGGATT
XR_929726.2:n.1070_1079delinsCGAGGGGATT
NM_001134707.2:c.903_912delinsCGAGGGGATT MANE Select NP_001128179.1:p.Ile301=
NM_007101.4:c.903_912delinsCGAGGGGATT NP_009032.2:p.Ile301=