Canonical Allele Identifier: CA216276816

Gene: INS INS-IGF2

Linked Data

• ClinVar Variation Id: 435505
• ClinVar RCV Id: RCV000502801 ; RCV002464223
• dbSNP Id: rs1051986248
• gnomAD v3: 11-2161146-C-T
• gnomAD v4: 11-2161146-C-T
• MyVariant Identifiers: chr11:g.2182376C>T (hg19) ; chr11:g.2161146C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2161146C>T , CM000673.2:g.2161146C>T	GRCh38
NC_000011.9:g.2182376C>T , CM000673.1:g.2182376C>T	GRCh37
NC_000011.8:g.2138952C>T	NCBI36
NG_007114.1:g.5049G>A
NG_050578.1:g.5064G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381330.5:c.-18+22G>A (INS) MANE Select	ENSP00000370731.5:n.-18+22G>A
ENST00000250971.7:c.-22G>A (INS)	ENSP00000250971.3:n.-22G>A
ENST00000356578.8:c.-18+22G>A (INS-IGF2)	ENSP00000348986.4:n.-18+22G>A
ENST00000381330.4:c.-18+22G>A (INS)	ENSP00000370731.4:n.-18+22G>A
ENST00000397262.5:c.-175G>A (INS)	ENSP00000380432.1:n.-175G>A
ENST00000397270.1:c.-18+22G>A (INS-IGF2)	ENSP00000380440.1:n.-18+22G>A
ENST00000421783.1:c.-175G>A (INS)	ENSP00000408400.1:n.-175G>A
NM_000207.2:c.-18+22G>A (INS)	NP_000198.1:n.-18+22G>A
NM_001042376.2:c.-18+22G>A (INS-IGF2)	NP_001035835.1:n.-18+22G>A
NM_001185097.1:c.-22G>A (INS)	NP_001172026.1:n.-22G>A
NM_001185098.1:c.-175G>A (INS)	NP_001172027.1:n.-175G>A
NM_001291897.1:c.-56G>A (INS)	NP_001278826.1:n.-56G>A
NR_003512.3:n.42+22G>A (INS-IGF2)
NM_000207.3:c.-18+22G>A (INS) MANE Select	NP_000198.1:n.-18+22G>A
NM_001042376.3:c.-18+22G>A (INS-IGF2)	NP_001035835.1:n.-18+22G>A
NM_001185097.2:c.-22G>A (INS)	NP_001172026.1:n.-22G>A
NM_001291897.2:c.-56G>A (INS)	NP_001278826.1:n.-56G>A
NR_003512.4:n.42+22G>A (INS-IGF2)
NM_001185098.2:c.-175G>A (INS)	NP_001172027.1:n.-175G>A