Canonical Allele Identifier: CA9136064

Gene: INSR

Linked Data

• ClinVar Variation Id: 1225189
• ClinVar RCV Id: RCV001608647
• dbSNP Id: rs57380348
• ExAC: 19:7184674 G / GAAAT
• gnomAD v2: 19-7184674-G-GAAAT
• gnomAD v3: 19-7184663-G-GAAAT
• gnomAD v4: 19-7184663-G-GAAAT
• MyVariant Identifiers: chr19:g.7184690_7184691insAAAT (hg19) ; chr19:g.7184686_7184687insAAAT (hg19) ; chr19:g.7184674_7184675insAAAT (hg19) ; chr19:g.7184675_7184676insAAAT (hg38) ; chr19:g.7184663_7184664insAAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7184704_7184707dup , CM000681.2:g.7184704_7184707dup	GRCh38
NC_000019.9:g.7184715_7184718dup , CM000681.1:g.7184715_7184718dup	GRCh37
NC_000019.8:g.7135715_7135718dup	NCBI36
NG_008852.2:g.114334_114337dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.653-30_653-27dup MANE Select	ENSP00000303830.4:n.653-30_653-27dup
ENST00000302850.9:c.653-30_653-27dup	ENSP00000303830.4:n.653-30_653-27dup
ENST00000341500.9:c.653-30_653-27dup	ENSP00000342838.4:n.653-30_653-27dup
ENST00000598216.1:n.628-30_628-27dup
NM_000208.2:c.653-30_653-27dup	NP_000199.2:n.653-30_653-27dup
NM_000208.3:c.653-30_653-27dup	NP_000199.2:n.653-30_653-27dup
NM_001079817.1:c.653-30_653-27dup	NP_001073285.1:n.653-30_653-27dup
NM_001079817.2:c.653-30_653-27dup	NP_001073285.1:n.653-30_653-27dup
XM_011527988.1:c.731-30_731-27dup	XP_011526290.1:n.731-30_731-27dup
XM_011527989.1:c.731-30_731-27dup	XP_011526291.1:n.731-30_731-27dup
XM_011527988.2:c.653-30_653-27dup	XP_011526290.2:n.653-30_653-27dup
XM_011527989.3:c.653-30_653-27dup	XP_011526291.2:n.653-30_653-27dup
NM_000208.4:c.653-30_653-27dup MANE Select	NP_000199.2:n.653-30_653-27dup
NM_001079817.3:c.653-30_653-27dup	NP_001073285.1:n.653-30_653-27dup