Canonical Allele Identifier: CA628017010

Gene: CANT1

Linked Data

• ClinVar Variation Id: 3013371
• ClinVar RCV Id: RCV003870466
• dbSNP Id: rs1568034111
• gnomAD v2: 17-76991317-G-GTGTCCTTAGGCCCCGCACCCAGCTCCCGCCGCACCCCTGCACCTGGCTCCCACCCGGCCCCGCACC
• gnomAD v3: 17-78995235-G-GTGTCCTTAGGCCCCGCACCCAGCTCCCGCCGCACCCCTGCACCTGGCTCCCACCCGGCCCCGCACC
• gnomAD v4: 17-78995235-G-GTGTCCTTAGGCCCCGCACCCAGCTCCCGCCGCACCCCTGCACCTGGCTCCCACCCGGCCCCGCACC
• MyVariant Identifiers: chr17:g.76991317_76991318insTGTCCTTAGGCCCCGCACCCAGCTCCCGCCGCACCCCTGCACCTGGCTCCCACCCGGCCCCGCACC (hg19) ; chr17:g.78995235_78995236insTGTCCTTAGGCCCCGCACCCAGCTCCCGCCGCACCCCTGCACCTGGCTCCCACCCGGCCCCGCACC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78995245_78995310dup , CM000679.2:g.78995245_78995310dup	GRCh38
NC_000017.10:g.76991327_76991392dup , CM000679.1:g.76991327_76991392dup	GRCh37
NC_000017.9:g.74502922_74502987dup	NCBI36
NG_016645.1:g.19517_19582dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392446.10:c.632-80_632-15dup MANE Select	ENSP00000376241.4:n.632-80_632-15dup
ENST00000302345.6:c.632-80_632-15dup	ENSP00000307674.2:n.632-80_632-15dup
ENST00000392446.9:c.632-80_632-15dup	ENSP00000376241.4:n.632-80_632-15dup
ENST00000591773.5:c.632-80_632-15dup	ENSP00000467437.1:n.632-80_632-15dup
ENST00000592228.1:c.647+1675_647+1740dup	ENSP00000466743.1:n.647+1675_647+1740dup
ENST00000620915.4:c.632-80_632-15dup	ENSP00000477798.1:n.632-80_632-15dup
NM_001159772.1:c.632-80_632-15dup	NP_001153244.1:n.632-80_632-15dup
NM_001159773.1:c.632-80_632-15dup	NP_001153245.1:n.632-80_632-15dup
NM_138793.3:c.632-80_632-15dup	NP_620148.1:n.632-80_632-15dup
XM_005257020.1:c.632-80_632-15dup	XP_005257077.1:n.632-80_632-15dup
XM_005257021.1:c.632-80_632-15dup	XP_005257078.1:n.632-80_632-15dup
XM_005257022.1:c.632-80_632-15dup	XP_005257079.1:n.632-80_632-15dup
XM_006721683.1:c.632-80_632-15dup	XP_006721746.1:n.632-80_632-15dup
XM_011524291.1:c.632-80_632-15dup	XP_011522593.1:n.632-80_632-15dup
XM_011524292.1:c.632-80_632-15dup	XP_011522594.1:n.632-80_632-15dup
XM_011524293.1:c.632-80_632-15dup	XP_011522595.1:n.632-80_632-15dup
XM_011524294.1:c.632-80_632-15dup	XP_011522596.1:n.632-80_632-15dup
XM_011524295.1:c.632-80_632-15dup	XP_011522597.1:n.632-80_632-15dup
XM_011524294.2:c.632-80_632-15dup	XP_011522596.1:n.632-80_632-15dup
XM_011524295.2:c.632-80_632-15dup	XP_011522597.1:n.632-80_632-15dup
XM_024450564.1:c.632-80_632-15dup	XP_024306332.1:n.632-80_632-15dup
XR_001752424.2:n.1076-80_1076-15dup
NM_001159773.2:c.632-80_632-15dup MANE Select	NP_001153245.1:n.632-80_632-15dup
NM_001159772.2:c.632-80_632-15dup	NP_001153244.1:n.632-80_632-15dup
NM_138793.4:c.632-80_632-15dup	NP_620148.1:n.632-80_632-15dup