Canonical Allele Identifier: CA1082939611

Gene: GM2A

Linked Data

• gnomAD v3: 5-151259848-A-AAATGTGACCCTCAGTGTCGTGGGCAGCACCAGTGTCCCCCTGAGTTCACATCG
• gnomAD v4: 5-151259848-A-AAATGTGACCCTCAGTGTCGTGGGCAGCACCAGTGTCCCCCTGAGTTCACATCG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151259848_151259849insAATGTGACCCTCAGTGTCGTGGGCAGCACCAGTGTCCCCCTGAGTTCACATCG , CM000667.2:g.151259848_151259849insAATGTGACCCTCAGTGTCGTGGGCAGCACCAGTGTCCCCCTGAGTTCACATCG	GRCh38
NC_000005.9:g.150639409_150639410insAATGTGACCCTCAGTGTCGTGGGCAGCACCAGTGTCCCCCTGAGTTCACATCG , CM000667.1:g.150639409_150639410insAATGTGACCCTCAGTGTCGTGGGCAGCACCAGTGTCCCCCTGAGTTCACATCG	GRCh37
NC_000005.8:g.150619602_150619603insAATGTGACCCTCAGTGTCGTGGGCAGCACCAGTGTCCCCCTGAGTTCACATCG	NCBI36
NG_009059.1:g.11797_11798insAATGTGACCCTCAGTGTCGTGGGCAGCACCAGTGTCCCCCTGAGTTCACATCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000357164.4:c.175_176insAATGTGACCCTCAGTGTCGTGGGCAGCACCAGTGTCCCCCTGAGTTCACATCG MANE Select	ENSP00000349687.3:p.Ile59LysfsTer24
ENST00000357164.3:c.175_176insAATGTGACCCTCAGTGTCGTGGGCAGCACCAGTGTCCCCCTGAGTTCACATCG	ENSP00000349687.3:p.Ile59LysfsTer24
ENST00000523004.1:c.50_51insAATGTGACCCTCAGTGTCGTGGGCAGCACCAGTGTCCCCCTGAGTTCACATCG
ENST00000523466.5:c.220_221insAATGTGACCCTCAGTGTCGTGGGCAGCACCAGTGTCCCCCTGAGTTCACATCG	ENSP00000429100.1:p.Ile74LysfsTer24
NM_000405.4:c.175_176insAATGTGACCCTCAGTGTCGTGGGCAGCACCAGTGTCCCCCTGAGTTCACATCG	NP_000396.2:p.Ile59LysfsTer24
NM_001167607.1:c.175_176insAATGTGACCCTCAGTGTCGTGGGCAGCACCAGTGTCCCCCTGAGTTCACATCG	NP_001161079.1:p.Ile59LysfsTer24
NM_000405.5:c.175_176insAATGTGACCCTCAGTGTCGTGGGCAGCACCAGTGTCCCCCTGAGTTCACATCG MANE Select	NP_000396.2:p.Ile59LysfsTer24
NM_001167607.2:c.175_176insAATGTGACCCTCAGTGTCGTGGGCAGCACCAGTGTCCCCCTGAGTTCACATCG	NP_001161079.1:p.Ile59LysfsTer24
NM_001167607.3:c.175_176insAATGTGACCCTCAGTGTCGTGGGCAGCACCAGTGTCCCCCTGAGTTCACATCG	NP_001161079.1:p.Ile59LysfsTer24