Canonical Allele Identifier: CA9135290

Gene: INSR

Linked Data

• dbSNP Id: rs2288405
• ExAC: 19:7122857 G / C
• gnomAD v2: 19-7122857-G-C
• gnomAD v4: 19-7122846-G-C
• MyVariant Identifiers: chr19:g.7122857G>C (hg19) ; chr19:g.7122846G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7122846G>C , CM000681.2:g.7122846G>C	GRCh38
NC_000019.9:g.7122857G>C , CM000681.1:g.7122857G>C	GRCh37
NC_000019.8:g.7073857G>C	NCBI36
NG_008852.2:g.176155C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3369+33C>G MANE Select	ENSP00000303830.4:n.3369+33C>G
ENST00000302850.9:c.3369+33C>G	ENSP00000303830.4:n.3369+33C>G
ENST00000341500.9:c.3333+33C>G	ENSP00000342838.4:n.3333+33C>G
ENST00000593970.1:n.215+33C>G
ENST00000601099.1:n.280+33C>G
NM_000208.2:c.3369+33C>G	NP_000199.2:n.3369+33C>G
NM_000208.3:c.3369+33C>G	NP_000199.2:n.3369+33C>G
NM_001079817.1:c.3333+33C>G	NP_001073285.1:n.3333+33C>G
NM_001079817.2:c.3333+33C>G	NP_001073285.1:n.3333+33C>G
XM_011527988.1:c.3444+33C>G	XP_011526290.1:n.3444+33C>G
XM_011527989.1:c.3408+33C>G	XP_011526291.1:n.3408+33C>G
XM_011527988.2:c.3366+33C>G	XP_011526290.2:n.3366+33C>G
XM_011527989.3:c.3330+33C>G	XP_011526291.2:n.3330+33C>G
NM_000208.4:c.3369+33C>G MANE Select	NP_000199.2:n.3369+33C>G
NM_001079817.3:c.3333+33C>G	NP_001073285.1:n.3333+33C>G