Canonical Allele Identifier: CA304856010

Gene: INSR

Linked Data

• ClinVar Variation Id: 1237957
• ClinVar RCV Id: RCV001637505
• dbSNP Id: rs200089915
• gnomAD v2: 19-7165877-GAA-G
• gnomAD v3: 19-7165866-GAA-G
• gnomAD v4: 19-7165866-GAA-G
• MyVariant Identifiers: chr19:g.7165879_7165880del (hg19) ; chr19:g.7165878_7165879del (hg19) ; chr19:g.7165868_7165869del (hg38) ; chr19:g.7165867_7165868del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7165881_7165882del , CM000681.2:g.7165881_7165882del	GRCh38
NC_000019.9:g.7165892_7165893del , CM000681.1:g.7165892_7165893del	GRCh37
NC_000019.8:g.7116892_7116893del	NCBI36
NG_008852.2:g.133133_133134del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.1861+286_1861+287del MANE Select	ENSP00000303830.4:n.1861+286_1861+287del
ENST00000302850.9:c.1861+286_1861+287del	ENSP00000303830.4:n.1861+286_1861+287del
ENST00000341500.9:c.1861+286_1861+287del	ENSP00000342838.4:n.1861+286_1861+287del
ENST00000598216.1:n.1836+286_1836+287del
ENST00000600492.1:c.262+286_262+287del	ENSP00000473170.1:n.262+286_262+287del
NM_000208.2:c.1861+286_1861+287del	NP_000199.2:n.1861+286_1861+287del
NM_000208.3:c.1861+286_1861+287del	NP_000199.2:n.1861+286_1861+287del
NM_001079817.1:c.1861+286_1861+287del	NP_001073285.1:n.1861+286_1861+287del
NM_001079817.2:c.1861+286_1861+287del	NP_001073285.1:n.1861+286_1861+287del
XM_011527988.1:c.1939+286_1939+287del	XP_011526290.1:n.1939+286_1939+287del
XM_011527989.1:c.1939+286_1939+287del	XP_011526291.1:n.1939+286_1939+287del
XM_011527988.2:c.1861+286_1861+287del	XP_011526290.2:n.1861+286_1861+287del
XM_011527989.3:c.1861+286_1861+287del	XP_011526291.2:n.1861+286_1861+287del
NM_000208.4:c.1861+286_1861+287del MANE Select	NP_000199.2:n.1861+286_1861+287del
NM_001079817.3:c.1861+286_1861+287del	NP_001073285.1:n.1861+286_1861+287del