Canonical Allele Identifier: CA421242981

Gene: GBA1

Linked Data

• MyVariant Identifiers: chr1:g.155205025_155205044delinsCA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155235234_155235253delinsCA , CM000663.2:g.155235234_155235253delinsCA	GRCh38
NC_000001.10:g.155205025_155205044delinsCA , CM000663.1:g.155205025_155205044delinsCA	GRCh37
NC_000001.9:g.153471649_153471668delinsCA	NCBI36
NG_009783.1:g.14445_14464delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.1447_1466delinsTG MANE Select	ENSP00000357357.3:p.Leu483_Met489delinsTrp
ENST00000327247.9:c.1447_1466delinsTG	ENSP00000314508.5:p.Leu483_Met489delinsTrp
ENST00000368373.7:c.1447_1466delinsTG	ENSP00000357357.3:p.Leu483_Met489delinsTrp
ENST00000427500.7:c.1300_1319delinsTG	ENSP00000402577.2:p.Leu434_Met440delinsTrp
ENST00000428024.3:c.1186_1205delinsTG	ENSP00000397986.2:p.Leu396_Met402delinsTrp
ENST00000464536.1:n.190+393_191-413delinsTG
ENST00000478472.1:n.807_826delinsTG
ENST00000484489.5:n.606_625delinsTG
NM_000157.3:c.1447_1466delinsTG	NP_000148.2:p.Leu483_Met489delinsTrp
NM_001005741.2:c.1447_1466delinsTG	NP_001005741.1:p.Leu483_Met489delinsTrp
NM_001005742.2:c.1447_1466delinsTG	NP_001005742.1:p.Leu483_Met489delinsTrp
NM_001171811.1:c.1186_1205delinsTG	NP_001165282.1:p.Leu396_Met402delinsTrp
NM_001171812.1:c.1300_1319delinsTG	NP_001165283.1:p.Leu434_Met440delinsTrp
XM_006711270.1:c.1447_1466delinsTG	XP_006711333.1:p.Leu483_Met489delinsTrp
XM_011509407.1:c.1447_1466delinsTG	XP_011507709.1:p.Leu483_Met489delinsTrp
NM_000157.4:c.1447_1466delinsTG MANE Select	NP_000148.2:p.Leu483_Met489delinsTrp
NM_001005741.3:c.1447_1466delinsTG	NP_001005741.1:p.Leu483_Met489delinsTrp
NM_001005742.3:c.1447_1466delinsTG	NP_001005742.1:p.Leu483_Met489delinsTrp
NM_001171811.2:c.1186_1205delinsTG	NP_001165282.1:p.Leu396_Met402delinsTrp
NM_001171812.2:c.1300_1319delinsTG	NP_001165283.1:p.Leu434_Met440delinsTrp