Canonical Allele Identifier: CA645541372

Gene: SARDH

Linked Data

• COSMIC: COSM2150119 ; COSM2150120

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133730122_133730123del , CM000671.2:g.133730122_133730123del	GRCh38
NC_000009.11:g.136595244_136595245del , CM000671.1:g.136595244_136595245del	GRCh37
NC_000009.10:g.135585065_135585066del	NCBI36
NG_008987.1:g.14833_14834del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439388.6:c.755_756del MANE Select	ENSP00000403084.1:p.Val252GlyfsTer?
ENST00000298628.6:c.755_756del	ENSP00000298628.5:p.Val252GlyfsTer?
ENST00000371867.5:c.488_489del	ENSP00000360933.1:p.Val163GlyfsTer?
ENST00000371872.8:c.755_756del	ENSP00000360938.4:p.Val252GlyfsTer?
ENST00000422262.6:c.-86_-85del	ENSP00000415537.3:n.-86_-85del
ENST00000427237.6:c.755_756del	ENSP00000394210.2:p.Val252GlyfsTer?
ENST00000439388.5:c.755_756del	ENSP00000403084.1:p.Val252GlyfsTer?
ENST00000616662.4:c.755_756del	ENSP00000484683.1:p.Val252GlyfsTer?
NM_001134707.1:c.755_756del	NP_001128179.1:p.Val252GlyfsTer?
NM_007101.3:c.755_756del	NP_009032.2:p.Val252GlyfsTer?
XM_006716990.2:c.755_756del	XP_006717053.1:p.Val252GlyfsTer?
XM_011518333.1:c.755_756del	XP_011516635.1:p.Val252GlyfsTer?
XR_929726.1:n.922_923del
XR_929727.1:n.922_923del
XR_929728.1:n.922_923del
XM_017014367.1:c.755_756del	XP_016869856.1:p.Val252GlyfsTer?
XM_017014368.1:c.755_756del	XP_016869857.1:p.Val252GlyfsTer?
XR_001746213.1:n.1051_1052del
XR_001746214.1:n.2234_2235del
XR_001746215.1:n.1053_1054del
XR_001746216.1:n.1051_1052del
XR_001746217.1:n.1051_1052del
XR_001746218.1:n.1051_1052del
XR_929726.2:n.922_923del
NM_001134707.2:c.755_756del MANE Select	NP_001128179.1:p.Val252GlyfsTer?
NM_007101.4:c.755_756del	NP_009032.2:p.Val252GlyfsTer?