Canonical Allele Identifier: CA2648251676

Gene: GBA1

Linked Data

• gnomAD v4: 1-155237880-T-TAGTATGA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155237880_155237881insAGTATGA , CM000663.2:g.155237880_155237881insAGTATGA	GRCh38
NC_000001.10:g.155207671_155207672insAGTATGA , CM000663.1:g.155207671_155207672insAGTATGA	GRCh37
NC_000001.9:g.153474295_153474296insAGTATGA	NCBI36
NG_009783.1:g.11817_11818insTCATACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.761+253_761+254insTCATACT MANE Select	ENSP00000357357.3:n.761+253_761+254insTCATACT
ENST00000327247.9:c.761+253_761+254insTCATACT	ENSP00000314508.5:n.761+253_761+254insTCATACT
ENST00000368373.7:c.761+253_761+254insTCATACT	ENSP00000357357.3:n.761+253_761+254insTCATACT
ENST00000427500.7:c.614+253_614+254insTCATACT	ENSP00000402577.2:n.614+253_614+254insTCATACT
ENST00000428024.3:c.500+253_500+254insTCATACT	ENSP00000397986.2:n.500+253_500+254insTCATACT
ENST00000484489.5:n.340-1593_340-1592insTCATACT
ENST00000491081.5:n.366+253_366+254insTCATACT
ENST00000497670.5:n.384+253_384+254insTCATACT
NM_000157.3:c.761+253_761+254insTCATACT	NP_000148.2:n.761+253_761+254insTCATACT
NM_001005741.2:c.761+253_761+254insTCATACT	NP_001005741.1:n.761+253_761+254insTCATACT
NM_001005742.2:c.761+253_761+254insTCATACT	NP_001005742.1:n.761+253_761+254insTCATACT
NM_001171811.1:c.500+253_500+254insTCATACT	NP_001165282.1:n.500+253_500+254insTCATACT
NM_001171812.1:c.614+253_614+254insTCATACT	NP_001165283.1:n.614+253_614+254insTCATACT
XM_006711270.1:c.761+253_761+254insTCATACT	XP_006711333.1:n.761+253_761+254insTCATACT
XM_011509407.1:c.761+253_761+254insTCATACT	XP_011507709.1:n.761+253_761+254insTCATACT
NM_000157.4:c.761+253_761+254insTCATACT MANE Select	NP_000148.2:n.761+253_761+254insTCATACT
NM_001005741.3:c.761+253_761+254insTCATACT	NP_001005741.1:n.761+253_761+254insTCATACT
NM_001005742.3:c.761+253_761+254insTCATACT	NP_001005742.1:n.761+253_761+254insTCATACT
NM_001171811.2:c.500+253_500+254insTCATACT	NP_001165282.1:n.500+253_500+254insTCATACT
NM_001171812.2:c.614+253_614+254insTCATACT	NP_001165283.1:n.614+253_614+254insTCATACT