Canonical Allele Identifier: CA2576594981
Gene: INSR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7122853_7122854del , CM000681.2:g.7122853_7122854del GRCh38
NC_000019.9:g.7122864_7122865del , CM000681.1:g.7122864_7122865del GRCh37
NC_000019.8:g.7073864_7073865del NCBI36
NG_008852.2:g.176149_176150del

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.3369+27_3369+28del MANE Select ENSP00000303830.4:n.3369+27_3369+28del
ENST00000302850.9:c.3369+27_3369+28del ENSP00000303830.4:n.3369+27_3369+28del
ENST00000341500.9:c.3333+27_3333+28del ENSP00000342838.4:n.3333+27_3333+28del
ENST00000593970.1:n.215+27_215+28del
ENST00000601099.1:n.280+27_280+28del
NM_000208.2:c.3369+27_3369+28del NP_000199.2:n.3369+27_3369+28del
NM_000208.3:c.3369+27_3369+28del NP_000199.2:n.3369+27_3369+28del
NM_001079817.1:c.3333+27_3333+28del NP_001073285.1:n.3333+27_3333+28del
NM_001079817.2:c.3333+27_3333+28del NP_001073285.1:n.3333+27_3333+28del
XM_011527988.1:c.3444+27_3444+28del XP_011526290.1:n.3444+27_3444+28del
XM_011527989.1:c.3408+27_3408+28del XP_011526291.1:n.3408+27_3408+28del
XM_011527988.2:c.3366+27_3366+28del XP_011526290.2:n.3366+27_3366+28del
XM_011527989.3:c.3330+27_3330+28del XP_011526291.2:n.3330+27_3330+28del
NM_000208.4:c.3369+27_3369+28del MANE Select NP_000199.2:n.3369+27_3369+28del
NM_001079817.3:c.3333+27_3333+28del NP_001073285.1:n.3333+27_3333+28del