Canonical Allele Identifier: CA2648252050

Gene: GBA1

Linked Data

• gnomAD v4: 1-155238154-GGTCTGGTGGTAGAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238159_155238172del , CM000663.2:g.155238159_155238172del	GRCh38
NC_000001.10:g.155207950_155207963del , CM000663.1:g.155207950_155207963del	GRCh37
NC_000001.9:g.153474574_153474587del	NCBI36
NG_009783.1:g.11530_11543del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.727_740del MANE Select	ENSP00000357357.3:p.Ile243LeufsTer14
ENST00000327247.9:c.727_740del	ENSP00000314508.5:p.Ile243LeufsTer14
ENST00000368373.7:c.727_740del	ENSP00000357357.3:p.Ile243LeufsTer14
ENST00000427500.7:c.580_593del	ENSP00000402577.2:p.Ile194LeufsTer14
ENST00000428024.3:c.466_479del	ENSP00000397986.2:p.Ile156LeufsTer14
ENST00000460156.1:n.514_527del
ENST00000484489.5:n.339+1805_339+1818del
ENST00000491081.5:n.332_345del
ENST00000497670.5:n.350_363del
NM_000157.3:c.727_740del	NP_000148.2:p.Ile243LeufsTer14
NM_001005741.2:c.727_740del	NP_001005741.1:p.Ile243LeufsTer14
NM_001005742.2:c.727_740del	NP_001005742.1:p.Ile243LeufsTer14
NM_001171811.1:c.466_479del	NP_001165282.1:p.Ile156LeufsTer14
NM_001171812.1:c.580_593del	NP_001165283.1:p.Ile194LeufsTer14
XM_006711270.1:c.727_740del	XP_006711333.1:p.Ile243LeufsTer14
XM_011509407.1:c.727_740del	XP_011507709.1:p.Ile243LeufsTer14
NM_000157.4:c.727_740del MANE Select	NP_000148.2:p.Ile243LeufsTer14
NM_001005741.3:c.727_740del	NP_001005741.1:p.Ile243LeufsTer14
NM_001005742.3:c.727_740del	NP_001005742.1:p.Ile243LeufsTer14
NM_001171811.2:c.466_479del	NP_001165282.1:p.Ile156LeufsTer14
NM_001171812.2:c.580_593del	NP_001165283.1:p.Ile194LeufsTer14