Canonical Allele Identifier: CA993105745

Gene: INSR

Linked Data

• gnomAD v3: 19-7125526-C-CGGCG
• gnomAD v4: 19-7125526-C-CGGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7125526_7125527insGGCG , CM000681.2:g.7125526_7125527insGGCG	GRCh38
NC_000019.9:g.7125537_7125538insGGCG , CM000681.1:g.7125537_7125538insGGCG	GRCh37
NC_000019.8:g.7076537_7076538insGGCG	NCBI36
NG_008852.2:g.173474_173475insCGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3014_3015insCGCC MANE Select	ENSP00000303830.4:p.Phe1006AlafsTer?
ENST00000302850.9:c.3014_3015insCGCC	ENSP00000303830.4:p.Phe1006AlafsTer?
ENST00000341500.9:c.2978_2979insCGCC	ENSP00000342838.4:p.Phe994AlafsTer?
NM_000208.2:c.3014_3015insCGCC	NP_000199.2:p.Phe1006AlafsTer?
NM_000208.3:c.3014_3015insCGCC	NP_000199.2:p.Phe1006AlafsTer?
NM_001079817.1:c.2978_2979insCGCC	NP_001073285.1:p.Phe994AlafsTer?
NM_001079817.2:c.2978_2979insCGCC	NP_001073285.1:p.Phe994AlafsTer?
XM_011527988.1:c.3089_3090insCGCC	XP_011526290.1:p.Phe1031AlafsTer?
XM_011527989.1:c.3053_3054insCGCC	XP_011526291.1:p.Phe1019AlafsTer?
XM_011527988.2:c.3011_3012insCGCC	XP_011526290.2:p.Phe1005AlafsTer?
XM_011527989.3:c.2975_2976insCGCC	XP_011526291.2:p.Phe993AlafsTer?
NM_000208.4:c.3014_3015insCGCC MANE Select	NP_000199.2:p.Phe1006AlafsTer?
NM_001079817.3:c.2978_2979insCGCC	NP_001073285.1:p.Phe994AlafsTer?