Canonical Allele Identifier: CA487365401

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88434740_88434741insCCAAAGGACCCTCATGAACATCACCCAAATCCTCTCCCAAGAACTCTCCGCCACTGCCGCCCAAATCACCGCCGCCGTCGAGCTTTTGGACGACGGCGCGACCGTGCCGTTTATCGCCC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968396_87968397insCCAAAGGACCCTCATGAACATCACCCAAATCCTCTCCCAAGAACTCTCCGCCACTGCCGCCCAAATCACCGCCGCCGTCGAGCTTTTGGACGACGGCGCGACCGTGCCGTTTATCGCCC , CM000676.2:g.87968396_87968397insCCAAAGGACCCTCATGAACATCACCCAAATCCTCTCCCAAGAACTCTCCGCCACTGCCGCCCAAATCACCGCCGCCGTCGAGCTTTTGGACGACGGCGCGACCGTGCCGTTTATCGCCC	GRCh38
NC_000014.8:g.88434740_88434741insCCAAAGGACCCTCATGAACATCACCCAAATCCTCTCCCAAGAACTCTCCGCCACTGCCGCCCAAATCACCGCCGCCGTCGAGCTTTTGGACGACGGCGCGACCGTGCCGTTTATCGCCC , CM000676.1:g.88434740_88434741insCCAAAGGACCCTCATGAACATCACCCAAATCCTCTCCCAAGAACTCTCCGCCACTGCCGCCCAAATCACCGCCGCCGTCGAGCTTTTGGACGACGGCGCGACCGTGCCGTTTATCGCCC	GRCh37
NC_000014.7:g.87504493_87504494insCCAAAGGACCCTCATGAACATCACCCAAATCCTCTCCCAAGAACTCTCCGCCACTGCCGCCCAAATCACCGCCGCCGTCGAGCTTTTGGACGACGGCGCGACCGTGCCGTTTATCGCCC	NCBI36
NG_011853.2:g.30167_30168insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG
NG_011853.3:g.30167_30168insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.846_847insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG MANE Select	ENSP00000261304.2:p.Met283GlyfsTer3
ENST00000261304.6:c.846_847insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG	ENSP00000261304.2:p.Met283GlyfsTer3
ENST00000393568.8:c.777_778insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG	ENSP00000377198.4:p.Met260GlyfsTer3
ENST00000393569.6:c.768_769insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG	ENSP00000377199.2:p.Met257GlyfsTer3
ENST00000474294.6:n.836_837insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG
ENST00000477716.3:n.601_602insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG
ENST00000544807.6:c.678_679insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG	ENSP00000437513.2:p.Met227GlyfsTer3
ENST00000555000.5:c.213_214insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG	ENSP00000450472.1:p.Met72GlyfsTer3
ENST00000557316.5:c.*244_*245insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG	ENSP00000452314.1:n.*244_*245insGGGCGATAA...
ENST00000622264.4:c.836_837insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG
NM_000153.3:c.846_847insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG	NP_000144.2:p.Met283GlyfsTer3
NM_001201401.1:c.777_778insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG	NP_001188330.1:p.Met260GlyfsTer3
NM_001201402.1:c.768_769insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG	NP_001188331.1:p.Met257GlyfsTer3
XM_011536618.1:c.678_679insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG	XP_011534920.1:p.Met227GlyfsTer3
XM_011536618.2:c.678_679insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG	XP_011534920.1:p.Met227GlyfsTer3
NM_000153.4:c.846_847insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG MANE Select	NP_000144.2:p.Met283GlyfsTer3
NM_001201401.2:c.777_778insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG	NP_001188330.1:p.Met260GlyfsTer3
NM_001201402.2:c.768_769insGGGCGATAAACGGCACGGTCGCGCCGTCGTCCAAAAGCTCGACGGCGGCGGTGATTTGGGCGGCAGTGGCGGAGAGTTCTTGGGAGAGGATTTGGGTGATGTTCATGAGGGTCCTTTGG	NP_001188331.1:p.Met257GlyfsTer3