Canonical Allele Identifier: CA2665386362

Gene: LARS2

Linked Data

• gnomAD v4: 3-45476733-GTTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.45476736_45476738del , CM000665.2:g.45476736_45476738del	GRCh38
NC_000003.11:g.45518228_45518230del , CM000665.1:g.45518228_45518230del	GRCh37
NC_000003.10:g.45493232_45493234del	NCBI36
NG_033907.1:g.93154_93156del
NG_033907.2:g.93154_93156del
NG_033907.3:g.93173_93175del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265537.8:c.1018+109_1018+111del	ENSP00000265537.4:n.1018+109_1018+111del
ENST00000642274.1:c.1018+109_1018+111del	ENSP00000495707.1:n.1018+109_1018+111del
ENST00000645846.2:c.1018+109_1018+111del MANE Select	ENSP00000495093.1:n.1018+109_1018+111del
ENST00000650792.2:c.1018+109_1018+111del	ENSP00000498867.1:n.1018+109_1018+111del
ENST00000651549.1:c.1018+109_1018+111del	ENSP00000499002.1:n.1018+109_1018+111del
ENST00000652135.1:c.*886+109_*886+111del	ENSP00000499104.1:n.*886+109_*886+111del
ENST00000265537.7:c.1018+109_1018+111del	ENSP00000265537.3:n.1018+109_1018+111del
ENST00000414984.5:c.889+109_889+111del	ENSP00000412893.1:n.889+109_889+111del
ENST00000415258.5:c.1018+109_1018+111del	ENSP00000408576.1:n.1018+109_1018+111del
NM_015340.3:c.1018+109_1018+111del	NP_056155.1:n.1018+109_1018+111del
XM_005265006.1:c.1018+109_1018+111del	XP_005265063.1:n.1018+109_1018+111del
XM_011533554.1:c.1018+109_1018+111del	XP_011531856.1:n.1018+109_1018+111del
XM_005265006.2:c.1018+109_1018+111del	XP_005265063.1:n.1018+109_1018+111del
XM_011533554.2:c.1018+109_1018+111del	XP_011531856.1:n.1018+109_1018+111del
XM_017006042.1:c.1018+109_1018+111del	XP_016861531.1:n.1018+109_1018+111del
NM_015340.4:c.1018+109_1018+111del MANE Select	NP_056155.1:n.1018+109_1018+111del
NM_001368263.1:c.1018+109_1018+111del	NP_001355192.1:n.1018+109_1018+111del