Canonical Allele Identifier: CA403669442

Gene: INSR

Linked Data

• ClinVar Variation Id: 562225
• ClinVar RCV Id: RCV000755004
• dbSNP Id: rs1568426700
• gnomAD v4: 19-7120678-G-A
• MyVariant Identifiers: chr19:g.7120689G>A (hg19) ; chr19:g.7120678G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7120678G>A , CM000681.2:g.7120678G>A	GRCh38
NC_000019.9:g.7120689G>A , CM000681.1:g.7120689G>A	GRCh37
NC_000019.8:g.7071689G>A	NCBI36
NG_008852.2:g.178323C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.3601C>T MANE Select	ENSP00000303830.4:p.Arg1201Trp
ENST00000302850.9:c.3601C>T	ENSP00000303830.4:p.Arg1201Trp
ENST00000341500.9:c.3565C>T	ENSP00000342838.4:p.Arg1189Trp
ENST00000601099.1:n.512C>T
NM_000208.2:c.3601C>T	NP_000199.2:p.Arg1201Trp
NM_000208.3:c.3601C>T	NP_000199.2:p.Arg1201Trp
NM_001079817.1:c.3565C>T	NP_001073285.1:p.Arg1189Trp
NM_001079817.2:c.3565C>T	NP_001073285.1:p.Arg1189Trp
XM_011527988.1:c.3676C>T	XP_011526290.1:p.Arg1226Trp
XM_011527989.1:c.3640C>T	XP_011526291.1:p.Arg1214Trp
XM_011527988.2:c.3598C>T	XP_011526290.2:p.Arg1200Trp
XM_011527989.3:c.3562C>T	XP_011526291.2:p.Arg1188Trp
NM_000208.4:c.3601C>T MANE Select	NP_000199.2:p.Arg1201Trp
NM_001079817.3:c.3565C>T	NP_001073285.1:p.Arg1189Trp