Canonical Allele Identifier: CA2587921682

Gene: INSR

Linked Data

• gnomAD v4: 19-7122935-G-GCT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7122937_7122938dup , CM000681.2:g.7122937_7122938dup	GRCh38
NC_000019.9:g.7122948_7122949dup , CM000681.1:g.7122948_7122949dup	GRCh37
NC_000019.8:g.7073948_7073949dup	NCBI36
NG_008852.2:g.176064_176065dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3311_3312dup MANE Select	ENSP00000303830.4:p.Leu1105SerfsTer2
ENST00000302850.9:c.3311_3312dup	ENSP00000303830.4:p.Leu1105SerfsTer2
ENST00000341500.9:c.3275_3276dup	ENSP00000342838.4:p.Leu1093SerfsTer2
ENST00000593970.1:n.157_158dup
ENST00000601099.1:n.222_223dup
NM_000208.2:c.3311_3312dup	NP_000199.2:p.Leu1105SerfsTer2
NM_000208.3:c.3311_3312dup	NP_000199.2:p.Leu1105SerfsTer2
NM_001079817.1:c.3275_3276dup	NP_001073285.1:p.Leu1093SerfsTer2
NM_001079817.2:c.3275_3276dup	NP_001073285.1:p.Leu1093SerfsTer2
XM_011527988.1:c.3386_3387dup	XP_011526290.1:p.Leu1130SerfsTer2
XM_011527989.1:c.3350_3351dup	XP_011526291.1:p.Leu1118SerfsTer2
XM_011527988.2:c.3308_3309dup	XP_011526290.2:p.Leu1104SerfsTer2
XM_011527989.3:c.3272_3273dup	XP_011526291.2:p.Leu1092SerfsTer2
NM_000208.4:c.3311_3312dup MANE Select	NP_000199.2:p.Leu1105SerfsTer2
NM_001079817.3:c.3275_3276dup	NP_001073285.1:p.Leu1093SerfsTer2