Canonical Allele Identifier: CA2625958131

Gene: GALC

Linked Data

• gnomAD v4: 14-87933204-G-GAAACAA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87933204_87933205insAAACAA , CM000676.2:g.87933204_87933205insAAACAA	GRCh38
NC_000014.8:g.88399548_88399549insAAACAA , CM000676.1:g.88399548_88399549insAAACAA	GRCh37
NC_000014.7:g.87469301_87469302insAAACAA	NCBI36
NG_011853.2:g.65359_65360insTTGTTT
NG_011853.3:g.65359_65360insTTGTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.*1527_*1528insTTGTTT MANE Select	ENSP00000261304.2:n.*1527_*1528insTTGTTT
ENST00000261304.6:c.*1527_*1528insTTGTTT	ENSP00000261304.2:n.*1527_*1528insTTGTTT
ENST00000555000.5:c.*74+694_*74+695insTTGTTT	ENSP00000450472.1:n.*74+694_*74+695insTTG...
NM_000153.3:c.*1527_*1528insTTGTTT	NP_000144.2:n.*1527_*1528insTTGTTT
NM_001201401.1:c.*1527_*1528insTTGTTT	NP_001188330.1:n.*1527_*1528insTTGTTT
NM_001201402.1:c.*1527_*1528insTTGTTT	NP_001188331.1:n.*1527_*1528insTTGTTT
XM_011536618.1:c.*1527_*1528insTTGTTT	XP_011534920.1:n.*1527_*1528insTTGTTT
XM_011536618.2:c.*1527_*1528insTTGTTT	XP_011534920.1:n.*1527_*1528insTTGTTT
NM_000153.4:c.*1527_*1528insTTGTTT MANE Select	NP_000144.2:n.*1527_*1528insTTGTTT
NM_001201401.2:c.*1527_*1528insTTGTTT	NP_001188330.1:n.*1527_*1528insTTGTTT
NM_001201402.2:c.*1527_*1528insTTGTTT	NP_001188331.1:n.*1527_*1528insTTGTTT