Canonical Allele Identifier: CA2648251800

Gene: GBA1

Linked Data

• gnomAD v4: 1-155237937-G-GACATCTGTAATTCCAGCACTTTGGGGGGCAGGAGGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155237937_155237938insACATCTGTAATTCCAGCACTTTGGGGGGCAGGAGGAT , CM000663.2:g.155237937_155237938insACATCTGTAATTCCAGCACTTTGGGGGGCAGGAGGAT	GRCh38
NC_000001.10:g.155207728_155207729insACATCTGTAATTCCAGCACTTTGGGGGGCAGGAGGAT , CM000663.1:g.155207728_155207729insACATCTGTAATTCCAGCACTTTGGGGGGCAGGAGGAT	GRCh37
NC_000001.9:g.153474352_153474353insACATCTGTAATTCCAGCACTTTGGGGGGCAGGAGGAT	NCBI36
NG_009783.1:g.11760_11761insATCCTCCTGCCCCCCAAAGTGCTGGAATTACAGATGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.761+196_761+197insATCCTCCTGCCCCCCAAAGTGCTGGAATTACAGATGT MANE Select	ENSP00000357357.3:n.761+196_761+197insATCCTCCTGCCCCCCAAAGTGCT...
ENST00000327247.9:c.761+196_761+197insATCCTCCTGCCCCCCAAAGTGCTGGAATTACAGATGT	ENSP00000314508.5:n.761+196_761+197insATCCTCCTGCCCCCCAAAGTGCT...
ENST00000368373.7:c.761+196_761+197insATCCTCCTGCCCCCCAAAGTGCTGGAATTACAGATGT	ENSP00000357357.3:n.761+196_761+197insATCCTCCTGCCCCCCAAAGTGCT...
ENST00000427500.7:c.614+196_614+197insATCCTCCTGCCCCCCAAAGTGCTGGAATTACAGATGT	ENSP00000402577.2:n.614+196_614+197insATCCTCCTGCCCCCCAAAGTGCT...
ENST00000428024.3:c.500+196_500+197insATCCTCCTGCCCCCCAAAGTGCTGGAATTACAGATGT	ENSP00000397986.2:n.500+196_500+197insATCCTCCTGCCCCCCAAAGTGCT...
ENST00000460156.1:n.744_745insATCCTCCTGCCCCCCAAAGTGCTGGAATTACAGATGT
ENST00000484489.5:n.340-1650_340-1649insATCCTCCTGCCCCCCAAAGTGCTGGAATTACAGATGT
ENST00000491081.5:n.366+196_366+197insATCCTCCTGCCCCCCAAAGTGCTGGAATTACAGATGT
ENST00000497670.5:n.384+196_384+197insATCCTCCTGCCCCCCAAAGTGCTGGAATTACAGATGT
NM_000157.3:c.761+196_761+197insATCCTCCTGCCCCCCAAAGTGCTGGAATTACAGATGT	NP_000148.2:n.761+196_761+197insATCCTCCTGCCCCCCAAAGTGCTGGAATT...
NM_001005741.2:c.761+196_761+197insATCCTCCTGCCCCCCAAAGTGCTGGAATTACAGATGT	NP_001005741.1:n.761+196_761+197insATCCTCCTGCCCCCCAAAGTGCTGGA...
NM_001005742.2:c.761+196_761+197insATCCTCCTGCCCCCCAAAGTGCTGGAATTACAGATGT	NP_001005742.1:n.761+196_761+197insATCCTCCTGCCCCCCAAAGTGCTGGA...
NM_001171811.1:c.500+196_500+197insATCCTCCTGCCCCCCAAAGTGCTGGAATTACAGATGT	NP_001165282.1:n.500+196_500+197insATCCTCCTGCCCCCCAAAGTGCTGGA...
NM_001171812.1:c.614+196_614+197insATCCTCCTGCCCCCCAAAGTGCTGGAATTACAGATGT	NP_001165283.1:n.614+196_614+197insATCCTCCTGCCCCCCAAAGTGCTGGA...
XM_006711270.1:c.761+196_761+197insATCCTCCTGCCCCCCAAAGTGCTGGAATTACAGATGT	XP_006711333.1:n.761+196_761+197insATCCTCCTGCCCCCCAAAGTGCTGGA...
XM_011509407.1:c.761+196_761+197insATCCTCCTGCCCCCCAAAGTGCTGGAATTACAGATGT	XP_011507709.1:n.761+196_761+197insATCCTCCTGCCCCCCAAAGTGCTGGA...
NM_000157.4:c.761+196_761+197insATCCTCCTGCCCCCCAAAGTGCTGGAATTACAGATGT MANE Select	NP_000148.2:n.761+196_761+197insATCCTCCTGCCCCCCAAAGTGCTGGAATT...
NM_001005741.3:c.761+196_761+197insATCCTCCTGCCCCCCAAAGTGCTGGAATTACAGATGT	NP_001005741.1:n.761+196_761+197insATCCTCCTGCCCCCCAAAGTGCTGGA...
NM_001005742.3:c.761+196_761+197insATCCTCCTGCCCCCCAAAGTGCTGGAATTACAGATGT	NP_001005742.1:n.761+196_761+197insATCCTCCTGCCCCCCAAAGTGCTGGA...
NM_001171811.2:c.500+196_500+197insATCCTCCTGCCCCCCAAAGTGCTGGAATTACAGATGT	NP_001165282.1:n.500+196_500+197insATCCTCCTGCCCCCCAAAGTGCTGGA...
NM_001171812.2:c.614+196_614+197insATCCTCCTGCCCCCCAAAGTGCTGGAATTACAGATGT	NP_001165283.1:n.614+196_614+197insATCCTCCTGCCCCCCAAAGTGCTGGA...