Canonical Allele Identifier: CA266175

Gene: INS INS-IGF2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2159877T>C , CM000673.2:g.2159877T>C	GRCh38
NC_000011.9:g.2181107T>C , CM000673.1:g.2181107T>C	GRCh37
NC_000011.8:g.2137683T>C	NCBI36
NG_007114.1:g.6318A>G
NG_050578.1:g.6333A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000207.3:c.308A>G (INS) MANE Select	NP_000198.1:p.Tyr103Cys
ENST00000381330.5:c.308A>G (INS) MANE Select	ENSP00000370731.5:p.Tyr103Cys
NM_000207.2:c.308A>G (INS)	NP_000198.1:p.Tyr103Cys
NM_001042376.2:c.187+908A>G (INS-IGF2)	NP_001035835.1:n.187+908A>G
NM_001042376.3:c.187+908A>G (INS-IGF2)	NP_001035835.1:n.187+908A>G
NM_001185097.1:c.308A>G (INS)	NP_001172026.1:p.Tyr103Cys
NM_001185097.2:c.308A>G (INS)	NP_001172026.1:p.Tyr103Cys
NM_001185098.1:c.308A>G (INS)	NP_001172027.1:p.Tyr103Cys
NM_001185098.2:c.308A>G (INS)	NP_001172027.1:p.Tyr103Cys
NM_001291897.1:c.308A>G (INS)	NP_001278826.1:p.Tyr103Cys
NM_001291897.2:c.308A>G (INS)	NP_001278826.1:p.Tyr103Cys
NR_003512.3:n.246+908A>G (INS-IGF2)
NR_003512.4:n.246+908A>G (INS-IGF2)
ENST00000250971.7:c.308A>G (INS)	ENSP00000250971.3:p.Tyr103Cys
ENST00000356578.8:c.187+908A>G (INS-IGF2)	ENSP00000348986.4:n.187+908A>G
ENST00000381330.4:c.308A>G (INS)	ENSP00000370731.4:p.Tyr103Cys
ENST00000397262.5:c.308A>G (INS)	ENSP00000380432.1:p.Tyr103Cys
ENST00000397270.1:c.187+908A>G (INS-IGF2)	ENSP00000380440.1:n.187+908A>G
ENST00000421783.1:c.188-5A>G (INS)	ENSP00000408400.1:n.188-5A>G
ENST00000512523.1:c.272A>G (INS)	ENSP00000424008.1:p.Tyr91Cys