Canonical Allele Identifier: CA1007985416

Gene: GBA1

Linked Data

• gnomAD v3: 1-155239546-ATTTT-A
• gnomAD v4: 1-155239546-ATTTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239547_155239550del , CM000663.2:g.155239547_155239550del	GRCh38
NC_000001.10:g.155209338_155209341del , CM000663.1:g.155209338_155209341del	GRCh37
NC_000001.9:g.153475962_153475965del	NCBI36
NG_009783.1:g.10148_10151del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.454+66_454+69del MANE Select	ENSP00000357357.3:n.454+66_454+69del
ENST00000327247.9:c.454+66_454+69del	ENSP00000314508.5:n.454+66_454+69del
ENST00000368373.7:c.454+66_454+69del	ENSP00000357357.3:n.454+66_454+69del
ENST00000427500.7:c.307+336_307+339del	ENSP00000402577.2:n.307+336_307+339del
ENST00000428024.3:c.193+66_193+69del	ENSP00000397986.2:n.193+66_193+69del
ENST00000473570.5:n.775+66_775+69del
ENST00000484489.5:n.339+423_339+426del
ENST00000493842.5:n.792+66_792+69del
ENST00000497670.5:n.77+336_77+339del
NM_000157.3:c.454+66_454+69del	NP_000148.2:n.454+66_454+69del
NM_001005741.2:c.454+66_454+69del	NP_001005741.1:n.454+66_454+69del
NM_001005742.2:c.454+66_454+69del	NP_001005742.1:n.454+66_454+69del
NM_001171811.1:c.193+66_193+69del	NP_001165282.1:n.193+66_193+69del
NM_001171812.1:c.307+336_307+339del	NP_001165283.1:n.307+336_307+339del
XM_006711270.1:c.454+66_454+69del	XP_006711333.1:n.454+66_454+69del
XM_011509407.1:c.454+66_454+69del	XP_011507709.1:n.454+66_454+69del
NM_000157.4:c.454+66_454+69del MANE Select	NP_000148.2:n.454+66_454+69del
NM_001005741.3:c.454+66_454+69del	NP_001005741.1:n.454+66_454+69del
NM_001005742.3:c.454+66_454+69del	NP_001005742.1:n.454+66_454+69del
NM_001171811.2:c.193+66_193+69del	NP_001165282.1:n.193+66_193+69del
NM_001171812.2:c.307+336_307+339del	NP_001165283.1:n.307+336_307+339del