Canonical Allele Identifier: CA403667354

Gene: INSR

Linked Data

• ClinVar Variation Id: 1069695
• ClinVar RCV Id: RCV001381637
• dbSNP Id: rs2144950571
• gnomAD v4: 19-7170672-G-A
• MyVariant Identifiers: chr19:g.7170683G>A (hg19) ; chr19:g.7170672G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7170672G>A , CM000681.2:g.7170672G>A	GRCh38
NC_000019.9:g.7170683G>A , CM000681.1:g.7170683G>A	GRCh37
NC_000019.8:g.7121683G>A	NCBI36
NG_008852.2:g.128329C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.1348C>T MANE Select	ENSP00000303830.4:p.Gln450Ter
ENST00000302850.9:c.1348C>T	ENSP00000303830.4:p.Gln450Ter
ENST00000341500.9:c.1348C>T	ENSP00000342838.4:p.Gln450Ter
ENST00000598216.1:n.1323C>T
NM_000208.2:c.1348C>T	NP_000199.2:p.Gln450Ter
NM_000208.3:c.1348C>T	NP_000199.2:p.Gln450Ter
NM_001079817.1:c.1348C>T	NP_001073285.1:p.Gln450Ter
NM_001079817.2:c.1348C>T	NP_001073285.1:p.Gln450Ter
XM_011527988.1:c.1426C>T	XP_011526290.1:p.Gln476Ter
XM_011527989.1:c.1426C>T	XP_011526291.1:p.Gln476Ter
XM_011527988.2:c.1348C>T	XP_011526290.2:p.Gln450Ter
XM_011527989.3:c.1348C>T	XP_011526291.2:p.Gln450Ter
NM_000208.4:c.1348C>T MANE Select	NP_000199.2:p.Gln450Ter
NM_001079817.3:c.1348C>T	NP_001073285.1:p.Gln450Ter