Canonical Allele Identifier: CA9135463

Gene: INSR

Linked Data

• dbSNP Id: rs753461226
• ExAC: 19:7132272 C / T
• gnomAD v4: 19-7132261-C-T
• MyVariant Identifiers: chr19:g.7132272C>T (hg19) ; chr19:g.7132261C>T (hg38)

Genomic Alleles

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

Transcript Alleles

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