Canonical Allele Identifier: CA403668775

Gene: INSR

Linked Data

• ClinVar Variation Id: 2231216
• ClinVar RCV Id: RCV002707940
• gnomAD v4: 19-7117319-G-A
• MyVariant Identifiers: chr19:g.7117330G>A (hg19) ; chr19:g.7117319G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117319G>A , CM000681.2:g.7117319G>A	GRCh38
NC_000019.9:g.7117330G>A , CM000681.1:g.7117330G>A	GRCh37
NC_000019.8:g.7068330G>A	NCBI36
NG_008852.2:g.181682C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3886C>T MANE Select	ENSP00000303830.4:p.Pro1296Ser
ENST00000302850.9:c.3886C>T	ENSP00000303830.4:p.Pro1296Ser
ENST00000341500.9:c.3850C>T	ENSP00000342838.4:p.Pro1284Ser
NM_000208.2:c.3886C>T	NP_000199.2:p.Pro1296Ser
NM_000208.3:c.3886C>T	NP_000199.2:p.Pro1296Ser
NM_001079817.1:c.3850C>T	NP_001073285.1:p.Pro1284Ser
NM_001079817.2:c.3850C>T	NP_001073285.1:p.Pro1284Ser
XM_011527988.1:c.3961C>T	XP_011526290.1:p.Pro1321Ser
XM_011527989.1:c.3925C>T	XP_011526291.1:p.Pro1309Ser
XM_011527988.2:c.3883C>T	XP_011526290.2:p.Pro1295Ser
XM_011527989.3:c.3847C>T	XP_011526291.2:p.Pro1283Ser
NM_000208.4:c.3886C>T MANE Select	NP_000199.2:p.Pro1296Ser
NM_001079817.3:c.3850C>T	NP_001073285.1:p.Pro1284Ser