Canonical Allele Identifier: CA9135456

Gene: INSR

Linked Data

• ClinVar Variation Id: 1328345
• ClinVar RCV Id: RCV001795777 ; RCV001822011
• dbSNP Id: rs145713001
• ExAC: 19:7132245 G / A
• gnomAD v2: 19-7132245-G-A
• gnomAD v3: 19-7132234-G-A
• gnomAD v4: 19-7132234-G-A
• MyVariant Identifiers: chr19:g.7132245G>A (hg19) ; chr19:g.7132234G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7132234G>A , CM000681.2:g.7132234G>A	GRCh38
NC_000019.9:g.7132245G>A , CM000681.1:g.7132245G>A	GRCh37
NC_000019.8:g.7083245G>A	NCBI36
NG_008852.2:g.166767C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.2766C>T MANE Select	ENSP00000303830.4:p.Ser922=
ENST00000302850.9:c.2766C>T	ENSP00000303830.4:p.Ser922=
ENST00000341500.9:c.2730C>T	ENSP00000342838.4:p.Ser910=
NM_000208.2:c.2766C>T	NP_000199.2:p.Ser922=
NM_000208.3:c.2766C>T	NP_000199.2:p.Ser922=
NM_001079817.1:c.2730C>T	NP_001073285.1:p.Ser910=
NM_001079817.2:c.2730C>T	NP_001073285.1:p.Ser910=
XM_011527988.1:c.2844C>T	XP_011526290.1:p.Ser948=
XM_011527989.1:c.2808C>T	XP_011526291.1:p.Ser936=
XM_011527988.2:c.2766C>T	XP_011526290.2:p.Ser922=
XM_011527989.3:c.2730C>T	XP_011526291.2:p.Ser910=
NM_000208.4:c.2766C>T MANE Select	NP_000199.2:p.Ser922=
NM_001079817.3:c.2730C>T	NP_001073285.1:p.Ser910=