Canonical Allele Identifier: CA379121752
Gene: INS HGNC NCBI
INS-IGF2 HGNC NCBI

Linked Data

gnomAD v4: 11-2160866-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2160866C>G , CM000673.2:g.2160866C>G GRCh38
NC_000011.9:g.2182096C>G , CM000673.1:g.2182096C>G GRCh37
NC_000011.8:g.2138672C>G NCBI36
NG_007114.1:g.5329G>C
NG_050578.1:g.5344G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381330.5:c.106G>C (INS) MANE Select ENSP00000370731.5:p.Val36Leu
ENST00000250971.7:c.106G>C (INS) ENSP00000250971.3:p.Val36Leu
ENST00000356578.8:c.106G>C (INS-IGF2) ENSP00000348986.4:p.Val36Leu
ENST00000381330.4:c.106G>C (INS) ENSP00000370731.4:p.Val36Leu
ENST00000397262.5:c.106G>C (INS) ENSP00000380432.1:p.Val36Leu
ENST00000397270.1:c.106G>C (INS-IGF2) ENSP00000380440.1:p.Val36Leu
ENST00000421783.1:c.106G>C (INS) ENSP00000408400.1:p.Val36Leu
ENST00000512523.1:c.106G>C (INS) ENSP00000424008.1:p.Val36Leu
NM_000207.2:c.106G>C (INS) NP_000198.1:p.Val36Leu
NM_001042376.2:c.106G>C (INS-IGF2) NP_001035835.1:p.Val36Leu
NM_001185097.1:c.106G>C (INS) NP_001172026.1:p.Val36Leu
NM_001185098.1:c.106G>C (INS) NP_001172027.1:p.Val36Leu
NM_001291897.1:c.106G>C (INS) NP_001278826.1:p.Val36Leu
NR_003512.3:n.165G>C (INS-IGF2)
NM_000207.3:c.106G>C (INS) MANE Select NP_000198.1:p.Val36Leu
NM_001042376.3:c.106G>C (INS-IGF2) NP_001035835.1:p.Val36Leu
NM_001185097.2:c.106G>C (INS) NP_001172026.1:p.Val36Leu
NM_001291897.2:c.106G>C (INS) NP_001278826.1:p.Val36Leu
NR_003512.4:n.165G>C (INS-IGF2)
NM_001185098.2:c.106G>C (INS) NP_001172027.1:p.Val36Leu