Canonical Allele Identifier: CA2587922098

Gene: INSR

Linked Data

• gnomAD v4: 19-7125453-C-CCAGCTCTCGAAGGAGGGTGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7125455_7125475dup , CM000681.2:g.7125455_7125475dup	GRCh38
NC_000019.9:g.7125466_7125486dup , CM000681.1:g.7125466_7125486dup	GRCh37
NC_000019.8:g.7076466_7076486dup	NCBI36
NG_008852.2:g.173527_173547dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3067_3087dup MANE Select	ENSP00000303830.4:p.Leu1029_Gly1030insIleThrLeuLeuArgGluLeu
ENST00000302850.9:c.3067_3087dup	ENSP00000303830.4:p.Leu1029_Gly1030insIleThrLeuLeuArgGluLeu
ENST00000341500.9:c.3031_3051dup	ENSP00000342838.4:p.Leu1017_Gly1018insIleThrLeuLeuArgGluLeu
NM_000208.2:c.3067_3087dup	NP_000199.2:p.Leu1029_Gly1030insIleThrLeuLeuArgGluLeu
NM_000208.3:c.3067_3087dup	NP_000199.2:p.Leu1029_Gly1030insIleThrLeuLeuArgGluLeu
NM_001079817.1:c.3031_3051dup	NP_001073285.1:p.Leu1017_Gly1018insIleThrLeuLeuArgGluLeu
NM_001079817.2:c.3031_3051dup	NP_001073285.1:p.Leu1017_Gly1018insIleThrLeuLeuArgGluLeu
XM_011527988.1:c.3142_3162dup	XP_011526290.1:p.Leu1054_Gly1055insIleThrLeuLeuArgGluLeu
XM_011527989.1:c.3106_3126dup	XP_011526291.1:p.Leu1042_Gly1043insIleThrLeuLeuArgGluLeu
XM_011527988.2:c.3064_3084dup	XP_011526290.2:p.Leu1028_Gly1029insIleThrLeuLeuArgGluLeu
XM_011527989.3:c.3028_3048dup	XP_011526291.2:p.Leu1016_Gly1017insIleThrLeuLeuArgGluLeu
NM_000208.4:c.3067_3087dup MANE Select	NP_000199.2:p.Leu1029_Gly1030insIleThrLeuLeuArgGluLeu
NM_001079817.3:c.3031_3051dup	NP_001073285.1:p.Leu1017_Gly1018insIleThrLeuLeuArgGluLeu