Canonical Allele Identifier: CA2692402298
Gene: SARDH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133729883_133729886del , CM000671.2:g.133729883_133729886del GRCh38
NC_000009.11:g.136595005_136595008del , CM000671.1:g.136595005_136595008del GRCh37
NC_000009.10:g.135584826_135584829del NCBI36
NG_008987.1:g.15074_15077del

Transcript Alleles

HGVS Amino-acid Change
ENST00000439388.6:c.815-17_815-14del MANE Select ENSP00000403084.1:n.815-17_815-14del
ENST00000298628.6:c.815-17_815-14del ENSP00000298628.5:n.815-17_815-14del
ENST00000371867.5:c.548-17_548-14del ENSP00000360933.1:n.548-17_548-14del
ENST00000371872.8:c.815-17_815-14del ENSP00000360938.4:n.815-17_815-14del
ENST00000422262.6:c.-26-17_-26-14del ENSP00000415537.3:n.-26-17_-26-14del
ENST00000427237.6:c.815-17_815-14del ENSP00000394210.2:n.815-17_815-14del
ENST00000439388.5:c.815-17_815-14del ENSP00000403084.1:n.815-17_815-14del
ENST00000616662.4:c.815-17_815-14del ENSP00000484683.1:n.815-17_815-14del
NM_001134707.1:c.815-17_815-14del NP_001128179.1:n.815-17_815-14del
NM_007101.3:c.815-17_815-14del NP_009032.2:n.815-17_815-14del
XM_006716990.2:c.815-17_815-14del XP_006717053.1:n.815-17_815-14del
XM_011518333.1:c.815-17_815-14del XP_011516635.1:n.815-17_815-14del
XR_929726.1:n.982-17_982-14del
XR_929727.1:n.982-17_982-14del
XR_929728.1:n.982-17_982-14del
XM_017014367.1:c.815-17_815-14del XP_016869856.1:n.815-17_815-14del
XM_017014368.1:c.815-17_815-14del XP_016869857.1:n.815-17_815-14del
XR_001746213.1:n.1111-17_1111-14del
XR_001746214.1:n.2294-17_2294-14del
XR_001746215.1:n.1113-17_1113-14del
XR_001746216.1:n.1111-17_1111-14del
XR_001746217.1:n.1111-17_1111-14del
XR_001746218.1:n.1111-17_1111-14del
XR_929726.2:n.982-17_982-14del
NM_001134707.2:c.815-17_815-14del MANE Select NP_001128179.1:n.815-17_815-14del
NM_007101.4:c.815-17_815-14del NP_009032.2:n.815-17_815-14del