Canonical Allele Identifier: CA2839976150

Gene: SARDH

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133729831del , CM000671.2:g.133729831del	GRCh38
NC_000009.11:g.136594953del , CM000671.1:g.136594953del	GRCh37
NC_000009.10:g.135584774del	NCBI36
NG_008987.1:g.15125del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439388.6:c.849del MANE Select	ENSP00000403084.1:p.Val284SerfsTer?
ENST00000298628.6:c.849del	ENSP00000298628.5:p.Val284SerfsTer?
ENST00000371867.5:c.582del	ENSP00000360933.1:p.Val195SerfsTer?
ENST00000371872.8:c.849del	ENSP00000360938.4:p.Val284SerfsTer?
ENST00000422262.6:c.9del	ENSP00000415537.3:p.Val4SerfsTer?
ENST00000427237.6:c.849del	ENSP00000394210.2:p.Val284SerfsTer?
ENST00000439388.5:c.849del	ENSP00000403084.1:p.Val284SerfsTer?
ENST00000616662.4:c.849del	ENSP00000484683.1:p.Val284SerfsTer?
NM_001134707.1:c.849del	NP_001128179.1:p.Val284SerfsTer?
NM_007101.3:c.849del	NP_009032.2:p.Val284SerfsTer?
XM_006716990.2:c.849del	XP_006717053.1:p.Val284SerfsTer?
XM_011518333.1:c.849del	XP_011516635.1:p.Val284SerfsTer?
XR_929726.1:n.1016del
XR_929727.1:n.1016del
XR_929728.1:n.1016del
XM_017014367.1:c.849del	XP_016869856.1:p.Val284SerfsTer?
XM_017014368.1:c.849del	XP_016869857.1:p.Val284SerfsTer?
XR_001746213.1:n.1145del
XR_001746214.1:n.2328del
XR_001746215.1:n.1147del
XR_001746216.1:n.1145del
XR_001746217.1:n.1145del
XR_001746218.1:n.1145del
XR_929726.2:n.1016del
NM_001134707.2:c.849del MANE Select	NP_001128179.1:p.Val284SerfsTer?
NM_007101.4:c.849del	NP_009032.2:p.Val284SerfsTer?