Canonical Allele Identifier: CA1882820944

Gene: SARDH

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133729561_133729566delinsGGATAC , CM000671.2:g.133729561_133729566delinsGGATAC	GRCh38
NC_000009.11:g.136594683_136594688delinsGGATAC , CM000671.1:g.136594683_136594688delinsGGATAC	GRCh37
NC_000009.10:g.135584504_135584509delinsGGATAC	NCBI36
NG_008987.1:g.15390_15395delinsGTATCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439388.6:c.915+199_915+204delinsGTATCC MANE Select	ENSP00000403084.1:n.915+199_915+204delinsGTATCC
ENST00000298628.6:c.915+199_915+204delinsGTATCC	ENSP00000298628.5:n.915+199_915+204delinsGTATCC
ENST00000371867.5:c.648+199_648+204delinsGTATCC	ENSP00000360933.1:n.648+199_648+204delinsGTATCC
ENST00000371872.8:c.915+199_915+204delinsGTATCC	ENSP00000360938.4:n.915+199_915+204delinsGTATCC
ENST00000422262.6:c.75+199_75+204delinsGTATCC	ENSP00000415537.3:n.75+199_75+204delinsGTATCC
ENST00000427237.6:c.915+199_915+204delinsGTATCC	ENSP00000394210.2:n.915+199_915+204delinsGTATCC
ENST00000439388.5:c.915+199_915+204delinsGTATCC	ENSP00000403084.1:n.915+199_915+204delinsGTATCC
ENST00000616662.4:c.915+199_915+204delinsGTATCC	ENSP00000484683.1:n.915+199_915+204delinsGTATCC
NM_001134707.1:c.915+199_915+204delinsGTATCC	NP_001128179.1:n.915+199_915+204delinsGTATCC
NM_007101.3:c.915+199_915+204delinsGTATCC	NP_009032.2:n.915+199_915+204delinsGTATCC
XM_006716990.2:c.915+199_915+204delinsGTATCC	XP_006717053.1:n.915+199_915+204delinsGTATCC
XM_011518333.1:c.915+199_915+204delinsGTATCC	XP_011516635.1:n.915+199_915+204delinsGTATCC
XR_929726.1:n.1082+199_1082+204delinsGTATCC
XR_929727.1:n.1082+199_1082+204delinsGTATCC
XR_929728.1:n.1082+199_1082+204delinsGTATCC
XM_017014367.1:c.915+199_915+204delinsGTATCC	XP_016869856.1:n.915+199_915+204delinsGTATCC
XM_017014368.1:c.915+199_915+204delinsGTATCC	XP_016869857.1:n.915+199_915+204delinsGTATCC
XR_001746213.1:n.1211+199_1211+204delinsGTATCC
XR_001746214.1:n.2394+199_2394+204delinsGTATCC
XR_001746215.1:n.1213+199_1213+204delinsGTATCC
XR_001746216.1:n.1211+199_1211+204delinsGTATCC
XR_001746217.1:n.1211+199_1211+204delinsGTATCC
XR_001746218.1:n.1211+199_1211+204delinsGTATCC
XR_929726.2:n.1082+199_1082+204delinsGTATCC
NM_001134707.2:c.915+199_915+204delinsGTATCC MANE Select	NP_001128179.1:n.915+199_915+204delinsGTATCC
NM_007101.4:c.915+199_915+204delinsGTATCC	NP_009032.2:n.915+199_915+204delinsGTATCC