Canonical Allele Identifier: CA2619465765

Gene: MARS1

Linked Data

• gnomAD v4: 12-57512049-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57512050del , CM000674.2:g.57512050del	GRCh38
NC_000012.11:g.57905833del , CM000674.1:g.57905833del	GRCh37
NC_000012.10:g.56192100del	NCBI36
NG_034077.1:g.29098del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1582del MANE Select	ENSP00000262027.5:p.Ile528SerfsTer?
ENST00000262027.9:c.1582del	ENSP00000262027.5:p.Ile528SerfsTer?
ENST00000447721.6:n.1224del
ENST00000537638.6:c.1582del	ENSP00000446168.2:p.Ile528SerfsTer22
ENST00000545888.6:c.*1083del	ENSP00000439307.2:n.*1083del
ENST00000546971.5:n.326del
ENST00000548630.1:n.143del
ENST00000548944.1:c.134-4445del	ENSP00000449071.1:n.134-4445del
ENST00000549048.1:n.115del
ENST00000628866.2:c.*1083del	ENSP00000486738.1:n.*1083del
NM_004990.3:c.1582del	NP_004981.2:p.Ile528SerfsTer?
XM_006719398.2:c.880del	XP_006719461.1:p.Ile294SerfsTer?
XM_011538353.1:c.1582del	XP_011536655.1:p.Ile528SerfsTer22
XM_006719398.4:c.880del	XP_006719461.1:p.Ile294SerfsTer?
XR_001748704.2:n.1605del
XR_002957327.1:n.1529del
NM_004990.4:c.1582del MANE Select	NP_004981.2:p.Ile528SerfsTer?