Canonical Allele Identifier: CA2038898424

Gene: MARS1

Linked Data

• ClinVar Variation Id: 2413921
• ClinVar RCV Id: RCV003106254
• dbSNP Id: rs1877538055
• gnomAD v4: 12-57511870-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57511875del , CM000674.2:g.57511875del	GRCh38
NC_000012.11:g.57905658del , CM000674.1:g.57905658del	GRCh37
NC_000012.10:g.56191925del	NCBI36
NG_034077.1:g.28923del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1539+7del MANE Select	ENSP00000262027.5:n.1539+7del
ENST00000262027.9:c.1539+7del	ENSP00000262027.5:n.1539+7del
ENST00000447721.6:n.1181+7del
ENST00000537638.6:c.1539+7del	ENSP00000446168.2:n.1539+7del
ENST00000545888.6:c.*1040+7del	ENSP00000439307.2:n.*1040+7del
ENST00000546971.5:n.283+7del
ENST00000548630.1:n.100+7del
ENST00000548944.1:c.134-4620del	ENSP00000449071.1:n.134-4620del
ENST00000549048.1:n.72+7del
ENST00000628866.2:c.*1040+7del	ENSP00000486738.1:n.*1040+7del
NM_004990.3:c.1539+7del	NP_004981.2:n.1539+7del
XM_006719398.2:c.837+7del	XP_006719461.1:n.837+7del
XM_011538353.1:c.1539+7del	XP_011536655.1:n.1539+7del
XM_006719398.4:c.837+7del	XP_006719461.1:n.837+7del
XR_001748704.2:n.1562+7del
XR_002957327.1:n.1486+7del
NM_004990.4:c.1539+7del MANE Select	NP_004981.2:n.1539+7del