Canonical Allele Identifier: CA505203734

Gene: INSR

Linked Data

• dbSNP Id: rs1479404541
• gnomAD v3: 19-7170682-G-A
• gnomAD v4: 19-7170682-G-A
• MyVariant Identifiers: chr19:g.7170693G>A (hg19) ; chr19:g.7170682G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7170682G>A , CM000681.2:g.7170682G>A	GRCh38
NC_000019.9:g.7170693G>A , CM000681.1:g.7170693G>A	GRCh37
NC_000019.8:g.7121693G>A	NCBI36
NG_008852.2:g.128319C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.1338C>T MANE Select	ENSP00000303830.4:p.Leu446=
ENST00000302850.9:c.1338C>T	ENSP00000303830.4:p.Leu446=
ENST00000341500.9:c.1338C>T	ENSP00000342838.4:p.Leu446=
ENST00000598216.1:n.1313C>T
NM_000208.2:c.1338C>T	NP_000199.2:p.Leu446=
NM_000208.3:c.1338C>T	NP_000199.2:p.Leu446=
NM_001079817.1:c.1338C>T	NP_001073285.1:p.Leu446=
NM_001079817.2:c.1338C>T	NP_001073285.1:p.Leu446=
XM_011527988.1:c.1416C>T	XP_011526290.1:p.Leu472=
XM_011527989.1:c.1416C>T	XP_011526291.1:p.Leu472=
XM_011527988.2:c.1338C>T	XP_011526290.2:p.Leu446=
XM_011527989.3:c.1338C>T	XP_011526291.2:p.Leu446=
NM_000208.4:c.1338C>T MANE Select	NP_000199.2:p.Leu446=
NM_001079817.3:c.1338C>T	NP_001073285.1:p.Leu446=