Canonical Allele Identifier: CA591071618
Gene: SARDH HGNC NCBI

Linked Data

dbSNP Id: rs1442026602

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133729771_133729779del , CM000671.2:g.133729771_133729779del GRCh38
NC_000009.11:g.136594893_136594901del , CM000671.1:g.136594893_136594901del GRCh37
NC_000009.10:g.135584714_135584722del NCBI36
NG_008987.1:g.15179_15187del

Transcript Alleles

HGVS Amino-acid Change
ENST00000439388.6:c.903_911del MANE Select ENSP00000403084.1:p.Glu302_Ile304del
ENST00000298628.6:c.903_911del ENSP00000298628.5:p.Glu302_Ile304del
ENST00000371867.5:c.636_644del ENSP00000360933.1:p.Glu213_Ile215del
ENST00000371872.8:c.903_911del ENSP00000360938.4:p.Glu302_Ile304del
ENST00000422262.6:c.63_71del ENSP00000415537.3:p.Glu22_Ile24del
ENST00000427237.6:c.903_911del ENSP00000394210.2:p.Glu302_Ile304del
ENST00000439388.5:c.903_911del ENSP00000403084.1:p.Glu302_Ile304del
ENST00000616662.4:c.903_911del ENSP00000484683.1:p.Glu302_Ile304del
NM_001134707.1:c.903_911del NP_001128179.1:p.Glu302_Ile304del
NM_007101.3:c.903_911del NP_009032.2:p.Glu302_Ile304del
XM_006716990.2:c.903_911del XP_006717053.1:p.Glu302_Ile304del
XM_011518333.1:c.903_911del XP_011516635.1:p.Glu302_Ile304del
XR_929726.1:n.1070_1078del
XR_929727.1:n.1070_1078del
XR_929728.1:n.1070_1078del
XM_017014367.1:c.903_911del XP_016869856.1:p.Glu302_Ile304del
XM_017014368.1:c.903_911del XP_016869857.1:p.Glu302_Ile304del
XR_001746213.1:n.1199_1207del
XR_001746214.1:n.2382_2390del
XR_001746215.1:n.1201_1209del
XR_001746216.1:n.1199_1207del
XR_001746217.1:n.1199_1207del
XR_001746218.1:n.1199_1207del
XR_929726.2:n.1070_1078del
NM_001134707.2:c.903_911del MANE Select NP_001128179.1:p.Glu302_Ile304del
NM_007101.4:c.903_911del NP_009032.2:p.Glu302_Ile304del