Canonical Allele Identifier: CA2521018966

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934668_87934669insCATACCCTTAGGAGTGGTT , CM000676.2:g.87934668_87934669insCATACCCTTAGGAGTGGTT	GRCh38
NC_000014.8:g.88401012_88401013insCATACCCTTAGGAGTGGTT , CM000676.1:g.88401012_88401013insCATACCCTTAGGAGTGGTT	GRCh37
NC_000014.7:g.87470765_87470766insCATACCCTTAGGAGTGGTT	NCBI36
NG_011853.2:g.63895_63896insAACCACTCCTAAGGGTATG
NG_011853.3:g.63895_63896insAACCACTCCTAAGGGTATG

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.*63_*64insAACCACTCCTAAGGGTATG MANE Select	ENSP00000261304.2:n.*63_*64insAACCACTCCTA...
ENST00000261304.6:c.*63_*64insAACCACTCCTAAGGGTATG	ENSP00000261304.2:n.*63_*64insAACCACTCCTA...
ENST00000393569.6:c.*63_*64insAACCACTCCTAAGGGTATG	ENSP00000377199.2:n.*63_*64insAACCACTCCTA...
ENST00000544807.6:c.1744-670_1744-669insAACCACTCCTAAGGGTATG	ENSP00000437513.2:n.1744-670_1744-669insA...
ENST00000555000.5:c.1279-670_1279-669insAACCACTCCTAAGGGTATG	ENSP00000450472.1:n.1279-670_1279-669insA...
NM_000153.3:c.*63_*64insAACCACTCCTAAGGGTATG	NP_000144.2:n.*63_*64insAACCACTCCTAAGGGTA...
NM_001201401.1:c.*63_*64insAACCACTCCTAAGGGTATG	NP_001188330.1:n.*63_*64insAACCACTCCTAAGG...
NM_001201402.1:c.*63_*64insAACCACTCCTAAGGGTATG	NP_001188331.1:n.*63_*64insAACCACTCCTAAGG...
XM_011536618.1:c.*63_*64insAACCACTCCTAAGGGTATG	XP_011534920.1:n.*63_*64insAACCACTCCTAAGG...
XM_011536618.2:c.*63_*64insAACCACTCCTAAGGGTATG	XP_011534920.1:n.*63_*64insAACCACTCCTAAGG...
NM_000153.4:c.*63_*64insAACCACTCCTAAGGGTATG MANE Select	NP_000144.2:n.*63_*64insAACCACTCCTAAGGGTA...
NM_001201401.2:c.*63_*64insAACCACTCCTAAGGGTATG	NP_001188330.1:n.*63_*64insAACCACTCCTAAGG...
NM_001201402.2:c.*63_*64insAACCACTCCTAAGGGTATG	NP_001188331.1:n.*63_*64insAACCACTCCTAAGG...