Canonical Allele Identifier: CA2587921002

Gene: INSR

Linked Data

• gnomAD v4: 19-7117244-ACTCCAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117250_7117255del , CM000681.2:g.7117250_7117255del	GRCh38
NC_000019.9:g.7117261_7117266del , CM000681.1:g.7117261_7117266del	GRCh37
NC_000019.8:g.7068261_7068266del	NCBI36
NG_008852.2:g.181751_181756del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3955_3960del MANE Select	ENSP00000303830.4:p.Met1319_Glu1320del
ENST00000302850.9:c.3955_3960del	ENSP00000303830.4:p.Met1319_Glu1320del
ENST00000341500.9:c.3919_3924del	ENSP00000342838.4:p.Met1307_Glu1308del
NM_000208.2:c.3955_3960del	NP_000199.2:p.Met1319_Glu1320del
NM_000208.3:c.3955_3960del	NP_000199.2:p.Met1319_Glu1320del
NM_001079817.1:c.3919_3924del	NP_001073285.1:p.Met1307_Glu1308del
NM_001079817.2:c.3919_3924del	NP_001073285.1:p.Met1307_Glu1308del
XM_011527988.1:c.4030_4035del	XP_011526290.1:p.Met1344_Glu1345del
XM_011527989.1:c.3994_3999del	XP_011526291.1:p.Met1332_Glu1333del
XM_011527988.2:c.3952_3957del	XP_011526290.2:p.Met1318_Glu1319del
XM_011527989.3:c.3916_3921del	XP_011526291.2:p.Met1306_Glu1307del
NM_000208.4:c.3955_3960del MANE Select	NP_000199.2:p.Met1319_Glu1320del
NM_001079817.3:c.3919_3924del	NP_001073285.1:p.Met1307_Glu1308del