Canonical Allele Identifier: CA2739291683

Gene: MARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57512077_57512088del , CM000674.2:g.57512077_57512088del	GRCh38
NC_000012.11:g.57905860_57905871del , CM000674.1:g.57905860_57905871del	GRCh37
NC_000012.10:g.56192127_56192138del	NCBI36
NG_034077.1:g.29125_29136del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1609_1620del MANE Select	ENSP00000262027.5:p.Glu537_Trp540del
ENST00000262027.9:c.1609_1620del	ENSP00000262027.5:p.Glu537_Trp540del
ENST00000447721.6:n.1251_1262del
ENST00000537638.6:c.1609_1620del	ENSP00000446168.2:p.Glu537_Trp540del
ENST00000545888.6:c.*1110_*1121del	ENSP00000439307.2:n.*1110_*1121del
ENST00000546971.5:n.353_364del
ENST00000548630.1:n.170_181del
ENST00000548944.1:c.134-4418_134-4407del	ENSP00000449071.1:n.134-4418_134-4407del
ENST00000549048.1:n.142_153del
ENST00000628866.2:c.*1110_*1121del	ENSP00000486738.1:n.*1110_*1121del
NM_004990.3:c.1609_1620del	NP_004981.2:p.Glu537_Trp540del
XM_006719398.2:c.907_918del	XP_006719461.1:p.Glu303_Trp306del
XM_011538353.1:c.1609_1620del	XP_011536655.1:p.Glu537_Trp540del
XM_006719398.4:c.907_918del	XP_006719461.1:p.Glu303_Trp306del
XR_001748704.2:n.1632_1643del
XR_002957327.1:n.1556_1567del
NM_004990.4:c.1609_1620del MANE Select	NP_004981.2:p.Glu537_Trp540del