Canonical Allele Identifier: CA2665386318

Gene: LARS2

Linked Data

• gnomAD v4: 3-45476524-C-CTTATATCCTTGAAGAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.45476524_45476525insTTATATCCTTGAAGAAA , CM000665.2:g.45476524_45476525insTTATATCCTTGAAGAAA	GRCh38
NC_000003.11:g.45518016_45518017insTTATATCCTTGAAGAAA , CM000665.1:g.45518016_45518017insTTATATCCTTGAAGAAA	GRCh37
NC_000003.10:g.45493020_45493021insTTATATCCTTGAAGAAA	NCBI36
NG_033907.1:g.92942_92943insTTATATCCTTGAAGAAA
NG_033907.2:g.92942_92943insTTATATCCTTGAAGAAA
NG_033907.3:g.92961_92962insTTATATCCTTGAAGAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265537.8:c.915_916insTTATATCCTTGAAGAAA	ENSP00000265537.4:p.Ile306LeufsTer4
ENST00000642274.1:c.915_916insTTATATCCTTGAAGAAA	ENSP00000495707.1:p.Ile306LeufsTer4
ENST00000645846.2:c.915_916insTTATATCCTTGAAGAAA MANE Select	ENSP00000495093.1:p.Ile306LeufsTer4
ENST00000650792.2:c.915_916insTTATATCCTTGAAGAAA	ENSP00000498867.1:p.Ile306LeufsTer4
ENST00000651549.1:c.915_916insTTATATCCTTGAAGAAA	ENSP00000499002.1:p.Ile306LeufsTer4
ENST00000652135.1:c.*783_*784insTTATATCCTTGAAGAAA	ENSP00000499104.1:n.*783_*784insTTATATCCTTGAAGAAA
ENST00000265537.7:c.915_916insTTATATCCTTGAAGAAA	ENSP00000265537.3:p.Ile306LeufsTer4
ENST00000414984.5:c.786_787insTTATATCCTTGAAGAAA	ENSP00000412893.1:p.Ile263LeufsTer4
ENST00000415258.5:c.915_916insTTATATCCTTGAAGAAA	ENSP00000408576.1:p.Ile306LeufsTer4
NM_015340.3:c.915_916insTTATATCCTTGAAGAAA	NP_056155.1:p.Ile306LeufsTer4
XM_005265006.1:c.915_916insTTATATCCTTGAAGAAA	XP_005265063.1:p.Ile306LeufsTer4
XM_011533554.1:c.915_916insTTATATCCTTGAAGAAA	XP_011531856.1:p.Ile306LeufsTer4
XM_005265006.2:c.915_916insTTATATCCTTGAAGAAA	XP_005265063.1:p.Ile306LeufsTer4
XM_011533554.2:c.915_916insTTATATCCTTGAAGAAA	XP_011531856.1:p.Ile306LeufsTer4
XM_017006042.1:c.915_916insTTATATCCTTGAAGAAA	XP_016861531.1:p.Ile306LeufsTer4
NM_015340.4:c.915_916insTTATATCCTTGAAGAAA MANE Select	NP_056155.1:p.Ile306LeufsTer4
NM_001368263.1:c.915_916insTTATATCCTTGAAGAAA	NP_001355192.1:p.Ile306LeufsTer4