Canonical Allele Identifier: CA505217615

Gene: INSR

Linked Data

• ClinVar Variation Id: 893639
• ClinVar RCV Id: RCV001132294 ; RCV001132295 ; RCV001132296
• dbSNP Id: rs753461226
• MyVariant Identifiers: chr19:g.7132272C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7132261C>A , CM000681.2:g.7132261C>A	GRCh38
NC_000019.9:g.7132272C>A , CM000681.1:g.7132272C>A	GRCh37
NC_000019.8:g.7083272C>A	NCBI36
NG_008852.2:g.166740G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.2739G>T MANE Select	ENSP00000303830.4:p.Leu913=
ENST00000302850.9:c.2739G>T	ENSP00000303830.4:p.Leu913=
ENST00000341500.9:c.2703G>T	ENSP00000342838.4:p.Leu901=
NM_000208.2:c.2739G>T	NP_000199.2:p.Leu913=
NM_000208.3:c.2739G>T	NP_000199.2:p.Leu913=
NM_001079817.1:c.2703G>T	NP_001073285.1:p.Leu901=
NM_001079817.2:c.2703G>T	NP_001073285.1:p.Leu901=
XM_011527988.1:c.2817G>T	XP_011526290.1:p.Leu939=
XM_011527989.1:c.2781G>T	XP_011526291.1:p.Leu927=
XM_011527988.2:c.2739G>T	XP_011526290.2:p.Leu913=
XM_011527989.3:c.2703G>T	XP_011526291.2:p.Leu901=
NM_000208.4:c.2739G>T MANE Select	NP_000199.2:p.Leu913=
NM_001079817.3:c.2703G>T	NP_001073285.1:p.Leu901=