Canonical Allele Identifier: CA403667134

Gene: INSR

Linked Data

• gnomAD v4: 19-7170576-T-G
• MyVariant Identifiers: chr19:g.7170587T>G (hg19) ; chr19:g.7170576T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7170576T>G , CM000681.2:g.7170576T>G	GRCh38
NC_000019.9:g.7170587T>G , CM000681.1:g.7170587T>G	GRCh37
NC_000019.8:g.7121587T>G	NCBI36
NG_008852.2:g.128425A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.1444A>C MANE Select	ENSP00000303830.4:p.Asn482His
ENST00000302850.9:c.1444A>C	ENSP00000303830.4:p.Asn482His
ENST00000341500.9:c.1444A>C	ENSP00000342838.4:p.Asn482His
ENST00000598216.1:n.1419A>C
NM_000208.2:c.1444A>C	NP_000199.2:p.Asn482His
NM_000208.3:c.1444A>C	NP_000199.2:p.Asn482His
NM_001079817.1:c.1444A>C	NP_001073285.1:p.Asn482His
NM_001079817.2:c.1444A>C	NP_001073285.1:p.Asn482His
XM_011527988.1:c.1522A>C	XP_011526290.1:p.Asn508His
XM_011527989.1:c.1522A>C	XP_011526291.1:p.Asn508His
XM_011527988.2:c.1444A>C	XP_011526290.2:p.Asn482His
XM_011527989.3:c.1444A>C	XP_011526291.2:p.Asn482His
NM_000208.4:c.1444A>C MANE Select	NP_000199.2:p.Asn482His
NM_001079817.3:c.1444A>C	NP_001073285.1:p.Asn482His