Canonical Allele Identifier: CA1141777

Gene: GBA1

Linked Data

• dbSNP Id: rs767999479
• ExAC: 1:155209579 GTA / G
• gnomAD v2: 1-155209579-GTA-G
• gnomAD v4: 1-155239788-GTA-G
• MyVariant Identifiers: chr1:g.155209580_155209581del (hg19) ; chr1:g.155239789_155239790del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239790_155239791del , CM000663.2:g.155239790_155239791del	GRCh38
NC_000001.10:g.155209581_155209582del , CM000663.1:g.155209581_155209582del	GRCh37
NC_000001.9:g.153476205_153476206del	NCBI36
NG_009783.1:g.9908_9909del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.308-28_308-27del MANE Select	ENSP00000357357.3:n.308-28_308-27del
ENST00000327247.9:c.308-28_308-27del	ENSP00000314508.5:n.308-28_308-27del
ENST00000368373.7:c.308-28_308-27del	ENSP00000357357.3:n.308-28_308-27del
ENST00000427500.7:c.307+96_307+97del	ENSP00000402577.2:n.307+96_307+97del
ENST00000428024.3:c.47-28_47-27del	ENSP00000397986.2:n.47-28_47-27del
ENST00000467918.5:n.498-28_498-27del
ENST00000473570.5:n.629-28_629-27del
ENST00000484489.5:n.339+183_339+184del
ENST00000493842.5:n.646-28_646-27del
ENST00000497670.5:n.77+96_77+97del
NM_000157.3:c.308-28_308-27del	NP_000148.2:n.308-28_308-27del
NM_001005741.2:c.308-28_308-27del	NP_001005741.1:n.308-28_308-27del
NM_001005742.2:c.308-28_308-27del	NP_001005742.1:n.308-28_308-27del
NM_001171811.1:c.47-28_47-27del	NP_001165282.1:n.47-28_47-27del
NM_001171812.1:c.307+96_307+97del	NP_001165283.1:n.307+96_307+97del
XM_006711270.1:c.308-28_308-27del	XP_006711333.1:n.308-28_308-27del
XM_011509407.1:c.308-28_308-27del	XP_011507709.1:n.308-28_308-27del
NM_000157.4:c.308-28_308-27del MANE Select	NP_000148.2:n.308-28_308-27del
NM_001005741.3:c.308-28_308-27del	NP_001005741.1:n.308-28_308-27del
NM_001005742.3:c.308-28_308-27del	NP_001005742.1:n.308-28_308-27del
NM_001171811.2:c.47-28_47-27del	NP_001165282.1:n.47-28_47-27del
NM_001171812.2:c.307+96_307+97del	NP_001165283.1:n.307+96_307+97del