Canonical Allele Identifier: CA2153385602

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984400_87984421delinsATAATCAATGTCCAAATCATGG , CM000676.2:g.87984400_87984421delinsATAATCAATGTCCAAATCATGG	GRCh38
NC_000014.8:g.88450744_88450765delinsATAATCAATGTCCAAATCATGG , CM000676.1:g.88450744_88450765delinsATAATCAATGTCCAAATCATGG	GRCh37
NC_000014.7:g.87520497_87520518delinsATAATCAATGTCCAAATCATGG	NCBI36
NG_011853.2:g.14143_14164delinsCCATGATTTGGACATTGATTAT
NG_011853.3:g.14143_14164delinsCCATGATTTGGACATTGATTAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.555_576delinsCCATGATTTGGACATTGATTAT MANE Select	ENSP00000261304.2:p.Tyr185=
ENST00000261304.6:c.555_576delinsCCATGATTTGGACATTGATTAT	ENSP00000261304.2:p.Tyr185=
ENST00000393568.8:c.486_507delinsCCATGATTTGGACATTGATTAT	ENSP00000377198.4:p.Tyr162=
ENST00000393569.6:c.477_498delinsCCATGATTTGGACATTGATTAT	ENSP00000377199.2:p.Tyr159=
ENST00000474294.6:n.545_566delinsCCATGATTTGGACATTGATTAT
ENST00000544807.6:c.387_408delinsCCATGATTTGGACATTGATTAT	ENSP00000437513.2:p.Tyr129=
ENST00000554372.5:c.*304_*325delinsCCATGATTTGGACATTGATTAT	ENSP00000451884.1:n.*304_*325delinsCCATGATTTGGACATTGATTAT
ENST00000554916.5:n.434_455delinsCCATGATTTGGACATTGATTAT
ENST00000556261.5:n.256_277delinsCCATGATTTGGACATTGATTAT
ENST00000557316.5:c.555_576delinsCCATGATTTGGACATTGATTAT	ENSP00000452314.1:p.Tyr185=
ENST00000622264.4:c.545_566delinsCCATGATTTGGACATTGATTAT
NM_000153.3:c.555_576delinsCCATGATTTGGACATTGATTAT	NP_000144.2:p.Tyr185=
NM_001201401.1:c.486_507delinsCCATGATTTGGACATTGATTAT	NP_001188330.1:p.Tyr162=
NM_001201402.1:c.477_498delinsCCATGATTTGGACATTGATTAT	NP_001188331.1:p.Tyr159=
XM_011536618.1:c.387_408delinsCCATGATTTGGACATTGATTAT	XP_011534920.1:p.Tyr129=
XM_011536618.2:c.387_408delinsCCATGATTTGGACATTGATTAT	XP_011534920.1:p.Tyr129=
NM_000153.4:c.555_576delinsCCATGATTTGGACATTGATTAT MANE Select	NP_000144.2:p.Tyr185=
NM_001201401.2:c.486_507delinsCCATGATTTGGACATTGATTAT	NP_001188330.1:p.Tyr162=
NM_001201402.2:c.477_498delinsCCATGATTTGGACATTGATTAT	NP_001188331.1:p.Tyr159=