Canonical Allele Identifier: CA2786178506

Gene: SARDH

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133729849_133729850del , CM000671.2:g.133729849_133729850del	GRCh38
NC_000009.11:g.136594971_136594972del , CM000671.1:g.136594971_136594972del	GRCh37
NC_000009.10:g.135584792_135584793del	NCBI36
NG_008987.1:g.15106_15107del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439388.6:c.830_831del MANE Select	ENSP00000403084.1:p.Ala277GlyfsTer?
ENST00000298628.6:c.830_831del	ENSP00000298628.5:p.Ala277GlyfsTer?
ENST00000371867.5:c.563_564del	ENSP00000360933.1:p.Ala188GlyfsTer?
ENST00000371872.8:c.830_831del	ENSP00000360938.4:p.Ala277GlyfsTer?
ENST00000422262.6:c.-11_-10del	ENSP00000415537.3:n.-11_-10del
ENST00000427237.6:c.830_831del	ENSP00000394210.2:p.Ala277GlyfsTer?
ENST00000439388.5:c.830_831del	ENSP00000403084.1:p.Ala277GlyfsTer?
ENST00000616662.4:c.830_831del	ENSP00000484683.1:p.Ala277GlyfsTer?
NM_001134707.1:c.830_831del	NP_001128179.1:p.Ala277GlyfsTer?
NM_007101.3:c.830_831del	NP_009032.2:p.Ala277GlyfsTer?
XM_006716990.2:c.830_831del	XP_006717053.1:p.Ala277GlyfsTer?
XM_011518333.1:c.830_831del	XP_011516635.1:p.Ala277GlyfsTer?
XR_929726.1:n.997_998del
XR_929727.1:n.997_998del
XR_929728.1:n.997_998del
XM_017014367.1:c.830_831del	XP_016869856.1:p.Ala277GlyfsTer?
XM_017014368.1:c.830_831del	XP_016869857.1:p.Ala277GlyfsTer?
XR_001746213.1:n.1126_1127del
XR_001746214.1:n.2309_2310del
XR_001746215.1:n.1128_1129del
XR_001746216.1:n.1126_1127del
XR_001746217.1:n.1126_1127del
XR_001746218.1:n.1126_1127del
XR_929726.2:n.997_998del
NM_001134707.2:c.830_831del MANE Select	NP_001128179.1:p.Ala277GlyfsTer?
NM_007101.4:c.830_831del	NP_009032.2:p.Ala277GlyfsTer?