Canonical Allele Identifier: CA9135886

Gene: INSR

Linked Data

• ClinVar Variation Id: 3054406
• ClinVar RCV Id: RCV004540781
• dbSNP Id: rs746682729
• ExAC: 19:7172336 C / T
• gnomAD v2: 19-7172336-C-T
• gnomAD v3: 19-7172325-C-T
• gnomAD v4: 19-7172325-C-T
• MyVariant Identifiers: chr19:g.7172336C>T (hg19) ; chr19:g.7172325C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7172325C>T , CM000681.2:g.7172325C>T	GRCh38
NC_000019.9:g.7172336C>T , CM000681.1:g.7172336C>T	GRCh37
NC_000019.8:g.7123336C>T	NCBI36
NG_008852.2:g.126676G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.1233G>A MANE Select	ENSP00000303830.4:p.Lys411=
ENST00000302850.9:c.1233G>A	ENSP00000303830.4:p.Lys411=
ENST00000341500.9:c.1233G>A	ENSP00000342838.4:p.Lys411=
ENST00000598216.1:n.1208G>A
NM_000208.2:c.1233G>A	NP_000199.2:p.Lys411=
NM_000208.3:c.1233G>A	NP_000199.2:p.Lys411=
NM_001079817.1:c.1233G>A	NP_001073285.1:p.Lys411=
NM_001079817.2:c.1233G>A	NP_001073285.1:p.Lys411=
XM_011527988.1:c.1311G>A	XP_011526290.1:p.Lys437=
XM_011527989.1:c.1311G>A	XP_011526291.1:p.Lys437=
XM_011527988.2:c.1233G>A	XP_011526290.2:p.Lys411=
XM_011527989.3:c.1233G>A	XP_011526291.2:p.Lys411=
NM_000208.4:c.1233G>A MANE Select	NP_000199.2:p.Lys411=
NM_001079817.3:c.1233G>A	NP_001073285.1:p.Lys411=