Canonical Allele Identifier: CA2619465766

Gene: MARS1

Linked Data

• gnomAD v4: 12-57512067-AGACCAGTGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57512070_57512078del , CM000674.2:g.57512070_57512078del	GRCh38
NC_000012.11:g.57905853_57905861del , CM000674.1:g.57905853_57905861del	GRCh37
NC_000012.10:g.56192120_56192128del	NCBI36
NG_034077.1:g.29118_29126del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1602_1610del MANE Select	ENSP00000262027.5:p.Asp534_Trp536del
ENST00000262027.9:c.1602_1610del	ENSP00000262027.5:p.Asp534_Trp536del
ENST00000447721.6:n.1244_1252del
ENST00000537638.6:c.1602_1610del	ENSP00000446168.2:p.Asp534_Trp536del
ENST00000545888.6:c.*1103_*1111del	ENSP00000439307.2:n.*1103_*1111del
ENST00000546971.5:n.346_354del
ENST00000548630.1:n.163_171del
ENST00000548944.1:c.134-4425_134-4417del	ENSP00000449071.1:n.134-4425_134-4417del
ENST00000549048.1:n.135_143del
ENST00000628866.2:c.*1103_*1111del	ENSP00000486738.1:n.*1103_*1111del
NM_004990.3:c.1602_1610del	NP_004981.2:p.Asp534_Trp536del
XM_006719398.2:c.900_908del	XP_006719461.1:p.Asp300_Trp302del
XM_011538353.1:c.1602_1610del	XP_011536655.1:p.Asp534_Trp536del
XM_006719398.4:c.900_908del	XP_006719461.1:p.Asp300_Trp302del
XR_001748704.2:n.1625_1633del
XR_002957327.1:n.1549_1557del
NM_004990.4:c.1602_1610del MANE Select	NP_004981.2:p.Asp534_Trp536del