Canonical Allele Identifier: CA403668585

Gene: INSR

Linked Data

• dbSNP Id: rs2144790092
• gnomAD v4: 19-7117238-C-T
• MyVariant Identifiers: chr19:g.7117249C>T (hg19) ; chr19:g.7117238C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117238C>T , CM000681.2:g.7117238C>T	GRCh38
NC_000019.9:g.7117249C>T , CM000681.1:g.7117249C>T	GRCh37
NC_000019.8:g.7068249C>T	NCBI36
NG_008852.2:g.181763G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3967G>A MANE Select	ENSP00000303830.4:p.Asp1323Asn
ENST00000302850.9:c.3967G>A	ENSP00000303830.4:p.Asp1323Asn
ENST00000341500.9:c.3931G>A	ENSP00000342838.4:p.Asp1311Asn
NM_000208.2:c.3967G>A	NP_000199.2:p.Asp1323Asn
NM_000208.3:c.3967G>A	NP_000199.2:p.Asp1323Asn
NM_001079817.1:c.3931G>A	NP_001073285.1:p.Asp1311Asn
NM_001079817.2:c.3931G>A	NP_001073285.1:p.Asp1311Asn
XM_011527988.1:c.4042G>A	XP_011526290.1:p.Asp1348Asn
XM_011527989.1:c.4006G>A	XP_011526291.1:p.Asp1336Asn
XM_011527988.2:c.3964G>A	XP_011526290.2:p.Asp1322Asn
XM_011527989.3:c.3928G>A	XP_011526291.2:p.Asp1310Asn
NM_000208.4:c.3967G>A MANE Select	NP_000199.2:p.Asp1323Asn
NM_001079817.3:c.3931G>A	NP_001073285.1:p.Asp1311Asn