Canonical Allele Identifier: CA2575202923

Gene: MARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57512015_57512016del , CM000674.2:g.57512015_57512016del	GRCh38
NC_000012.11:g.57905798_57905799del , CM000674.1:g.57905798_57905799del	GRCh37
NC_000012.10:g.56192065_56192066del	NCBI36
NG_034077.1:g.29063_29064del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1547_1548del MANE Select	ENSP00000262027.5:p.Tyr516CysfsTer4
ENST00000262027.9:c.1547_1548del	ENSP00000262027.5:p.Tyr516CysfsTer4
ENST00000447721.6:n.1189_1190del
ENST00000537638.6:c.1547_1548del	ENSP00000446168.2:p.Tyr516CysfsTer4
ENST00000545888.6:c.*1048_*1049del	ENSP00000439307.2:n.*1048_*1049del
ENST00000546971.5:n.291_292del
ENST00000548630.1:n.108_109del
ENST00000548944.1:c.134-4480_134-4479del	ENSP00000449071.1:n.134-4480_134-4479del
ENST00000549048.1:n.80_81del
ENST00000628866.2:c.*1048_*1049del	ENSP00000486738.1:n.*1048_*1049del
NM_004990.3:c.1547_1548del	NP_004981.2:p.Tyr516CysfsTer4
XM_006719398.2:c.845_846del	XP_006719461.1:p.Tyr282CysfsTer4
XM_011538353.1:c.1547_1548del	XP_011536655.1:p.Tyr516CysfsTer4
XM_006719398.4:c.845_846del	XP_006719461.1:p.Tyr282CysfsTer4
XR_001748704.2:n.1570_1571del
XR_002957327.1:n.1494_1495del
NM_004990.4:c.1547_1548del MANE Select	NP_004981.2:p.Tyr516CysfsTer4