Canonical Allele Identifier: CA2540434015
Gene: INSR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7170671_7170673del , CM000681.2:g.7170671_7170673del GRCh38
NC_000019.9:g.7170682_7170684del , CM000681.1:g.7170682_7170684del GRCh37
NC_000019.8:g.7121682_7121684del NCBI36
NG_008852.2:g.128328_128330del

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.1347_1349del MANE Select ENSP00000303830.4:p.Gln450del
ENST00000302850.9:c.1347_1349del ENSP00000303830.4:p.Gln450del
ENST00000341500.9:c.1347_1349del ENSP00000342838.4:p.Gln450del
ENST00000598216.1:n.1322_1324del
NM_000208.2:c.1347_1349del NP_000199.2:p.Gln450del
NM_000208.3:c.1347_1349del NP_000199.2:p.Gln450del
NM_001079817.1:c.1347_1349del NP_001073285.1:p.Gln450del
NM_001079817.2:c.1347_1349del NP_001073285.1:p.Gln450del
XM_011527988.1:c.1425_1427del XP_011526290.1:p.Gln476del
XM_011527989.1:c.1425_1427del XP_011526291.1:p.Gln476del
XM_011527988.2:c.1347_1349del XP_011526290.2:p.Gln450del
XM_011527989.3:c.1347_1349del XP_011526291.2:p.Gln450del
NM_000208.4:c.1347_1349del MANE Select NP_000199.2:p.Gln450del
NM_001079817.3:c.1347_1349del NP_001073285.1:p.Gln450del