Canonical Allele Identifier: CA2619465714

Gene: MARS1

Linked Data

• gnomAD v4: 12-57511787-T-TCGGGATGGCCTCAAGCCACGCTGCATAACCCGAGACCTCAAATGGGGAACC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57511789_57511839dup , CM000674.2:g.57511789_57511839dup	GRCh38
NC_000012.11:g.57905572_57905622dup , CM000674.1:g.57905572_57905622dup	GRCh37
NC_000012.10:g.56191839_56191889dup	NCBI36
NG_034077.1:g.28837_28887dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1460_1510dup MANE Select	ENSP00000262027.5:p.Thr503_Pro504insArgAspGlyLeuLysProArgCysI...
ENST00000262027.9:c.1460_1510dup	ENSP00000262027.5:p.Thr503_Pro504insArgAspGlyLeuLysProArgCysI...
ENST00000447721.6:n.1102_1152dup
ENST00000537638.6:c.1460_1510dup	ENSP00000446168.2:p.Thr503_Pro504insArgAspGlyLeuLysProArgCysI...
ENST00000545888.6:c.*961_*1011dup	ENSP00000439307.2:n.*961_*1011dup
ENST00000546971.5:n.204_254dup
ENST00000548630.1:n.21_71dup
ENST00000548944.1:c.134-4706_134-4656dup	ENSP00000449071.1:n.134-4706_134-4656dup
ENST00000628866.2:c.*961_*1011dup	ENSP00000486738.1:n.*961_*1011dup
NM_004990.3:c.1460_1510dup	NP_004981.2:p.Thr503_Pro504insArgAspGlyLeuLysProArgCysIleThrA...
XM_006719398.2:c.758_808dup	XP_006719461.1:p.Thr269_Pro270insArgAspGlyLeuLysProArgCysIleT...
XM_011538353.1:c.1460_1510dup	XP_011536655.1:p.Thr503_Pro504insArgAspGlyLeuLysProArgCysIleT...
XM_006719398.4:c.758_808dup	XP_006719461.1:p.Thr269_Pro270insArgAspGlyLeuLysProArgCysIleT...
XR_001748704.2:n.1483_1533dup
XR_002957327.1:n.1407_1457dup
NM_004990.4:c.1460_1510dup MANE Select	NP_004981.2:p.Thr503_Pro504insArgAspGlyLeuLysProArgCysIleThrA...