Canonical Allele Identifier: CA403666198

Gene: INSR

Linked Data

• dbSNP Id: rs750488699
• gnomAD v2: 19-7166176-G-A
• gnomAD v4: 19-7166165-G-A
• MyVariant Identifiers: chr19:g.7166176G>A (hg19) ; chr19:g.7166165G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7166165G>A , CM000681.2:g.7166165G>A	GRCh38
NC_000019.9:g.7166176G>A , CM000681.1:g.7166176G>A	GRCh37
NC_000019.8:g.7117176G>A	NCBI36
NG_008852.2:g.132836C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.1850C>T MANE Select	ENSP00000303830.4:p.Thr617Ile
ENST00000302850.9:c.1850C>T	ENSP00000303830.4:p.Thr617Ile
ENST00000341500.9:c.1850C>T	ENSP00000342838.4:p.Thr617Ile
ENST00000598216.1:n.1825C>T
ENST00000600492.1:c.251C>T	ENSP00000473170.1:p.Thr84Ile
NM_000208.2:c.1850C>T	NP_000199.2:p.Thr617Ile
NM_000208.3:c.1850C>T	NP_000199.2:p.Thr617Ile
NM_001079817.1:c.1850C>T	NP_001073285.1:p.Thr617Ile
NM_001079817.2:c.1850C>T	NP_001073285.1:p.Thr617Ile
XM_011527988.1:c.1928C>T	XP_011526290.1:p.Thr643Ile
XM_011527989.1:c.1928C>T	XP_011526291.1:p.Thr643Ile
XM_011527988.2:c.1850C>T	XP_011526290.2:p.Thr617Ile
XM_011527989.3:c.1850C>T	XP_011526291.2:p.Thr617Ile
NM_000208.4:c.1850C>T MANE Select	NP_000199.2:p.Thr617Ile
NM_001079817.3:c.1850C>T	NP_001073285.1:p.Thr617Ile