Canonical Allele Identifier: CA304866553

Gene: INSR

Linked Data

• dbSNP Id: rs990716608
• gnomAD v4: 19-7117236-G-T
• MyVariant Identifiers: chr19:g.7117247G>T (hg19) ; chr19:g.7117236G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117236G>T , CM000681.2:g.7117236G>T	GRCh38
NC_000019.9:g.7117247G>T , CM000681.1:g.7117247G>T	GRCh37
NC_000019.8:g.7068247G>T	NCBI36
NG_008852.2:g.181765C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3969C>A MANE Select	ENSP00000303830.4:p.Asp1323Glu
ENST00000302850.9:c.3969C>A	ENSP00000303830.4:p.Asp1323Glu
ENST00000341500.9:c.3933C>A	ENSP00000342838.4:p.Asp1311Glu
NM_000208.2:c.3969C>A	NP_000199.2:p.Asp1323Glu
NM_000208.3:c.3969C>A	NP_000199.2:p.Asp1323Glu
NM_001079817.1:c.3933C>A	NP_001073285.1:p.Asp1311Glu
NM_001079817.2:c.3933C>A	NP_001073285.1:p.Asp1311Glu
XM_011527988.1:c.4044C>A	XP_011526290.1:p.Asp1348Glu
XM_011527989.1:c.4008C>A	XP_011526291.1:p.Asp1336Glu
XM_011527988.2:c.3966C>A	XP_011526290.2:p.Asp1322Glu
XM_011527989.3:c.3930C>A	XP_011526291.2:p.Asp1310Glu
NM_000208.4:c.3969C>A MANE Select	NP_000199.2:p.Asp1323Glu
NM_001079817.3:c.3933C>A	NP_001073285.1:p.Asp1311Glu