Canonical Allele Identifier: CA2153381775

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976415_87976424delinsGACTCCCAGA , CM000676.2:g.87976415_87976424delinsGACTCCCAGA	GRCh38
NC_000014.8:g.88442759_88442768delinsGACTCCCAGA , CM000676.1:g.88442759_88442768delinsGACTCCCAGA	GRCh37
NC_000014.7:g.87512512_87512521delinsGACTCCCAGA	NCBI36
NG_011853.2:g.22140_22149delinsTCTGGGAGTC
NG_011853.3:g.22140_22149delinsTCTGGGAGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.686_695delinsTCTGGGAGTC MANE Select	ENSP00000261304.2:p.Leu229=
ENST00000261304.6:c.686_695delinsTCTGGGAGTC	ENSP00000261304.2:p.Leu229=
ENST00000393568.8:c.617_626delinsTCTGGGAGTC	ENSP00000377198.4:p.Leu206=
ENST00000393569.6:c.608_617delinsTCTGGGAGTC	ENSP00000377199.2:p.Leu203=
ENST00000474294.6:n.676_685delinsTCTGGGAGTC
ENST00000477716.3:n.441_450delinsTCTGGGAGTC
ENST00000544807.6:c.518_527delinsTCTGGGAGTC	ENSP00000437513.2:p.Leu173=
ENST00000554916.5:n.565_574delinsTCTGGGAGTC
ENST00000555000.5:c.53_62delinsTCTGGGAGTC	ENSP00000450472.1:p.Leu18=
ENST00000557316.5:c.*84_*93delinsTCTGGGAGTC	ENSP00000452314.1:n.*84_*93delinsTCTGGGAGTC
ENST00000622264.4:c.676_685delinsTCTGGGAGTC
NM_000153.3:c.686_695delinsTCTGGGAGTC	NP_000144.2:p.Leu229=
NM_001201401.1:c.617_626delinsTCTGGGAGTC	NP_001188330.1:p.Leu206=
NM_001201402.1:c.608_617delinsTCTGGGAGTC	NP_001188331.1:p.Leu203=
XM_011536618.1:c.518_527delinsTCTGGGAGTC	XP_011534920.1:p.Leu173=
XM_011536618.2:c.518_527delinsTCTGGGAGTC	XP_011534920.1:p.Leu173=
NM_000153.4:c.686_695delinsTCTGGGAGTC MANE Select	NP_000144.2:p.Leu229=
NM_001201401.2:c.617_626delinsTCTGGGAGTC	NP_001188330.1:p.Leu206=
NM_001201402.2:c.608_617delinsTCTGGGAGTC	NP_001188331.1:p.Leu203=