Canonical Allele Identifier: CA2813449652
Gene: INSR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7116753_7116756del , CM000681.2:g.7116753_7116756del GRCh38
NC_000019.9:g.7116764_7116767del , CM000681.1:g.7116764_7116767del GRCh37
NC_000019.8:g.7067764_7067767del NCBI36
NG_008852.2:g.182245_182248del

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.*300_*303del MANE Select ENSP00000303830.4:n.*300_*303del
ENST00000302850.9:c.*300_*303del ENSP00000303830.4:n.*300_*303del
ENST00000341500.9:c.*300_*303del ENSP00000342838.4:n.*300_*303del
NM_000208.2:c.*300_*303del NP_000199.2:n.*300_*303del
NM_000208.3:c.*300_*303del NP_000199.2:n.*300_*303del
NM_001079817.1:c.*300_*303del NP_001073285.1:n.*300_*303del
NM_001079817.2:c.*300_*303del NP_001073285.1:n.*300_*303del
XM_011527988.1:c.*300_*303del XP_011526290.1:n.*300_*303del
XM_011527989.1:c.*300_*303del XP_011526291.1:n.*300_*303del
XM_011527988.2:c.*300_*303del XP_011526290.2:n.*300_*303del
XM_011527989.3:c.*300_*303del XP_011526291.2:n.*300_*303del
NM_000208.4:c.*300_*303del MANE Select NP_000199.2:n.*300_*303del
NM_001079817.3:c.*300_*303del NP_001073285.1:n.*300_*303del