Canonical Allele Identifier: CA9135322

Gene: INSR

Linked Data

• dbSNP Id: rs750983293
• ExAC: 19:7125273 T / C
• gnomAD v2: 19-7125273-T-C
• gnomAD v4: 19-7125262-T-C
• MyVariant Identifiers: chr19:g.7125273T>C (hg19) ; chr19:g.7125262T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7125262T>C , CM000681.2:g.7125262T>C	GRCh38
NC_000019.9:g.7125273T>C , CM000681.1:g.7125273T>C	GRCh37
NC_000019.8:g.7076273T>C	NCBI36
NG_008852.2:g.173739A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3258+21A>G MANE Select	ENSP00000303830.4:n.3258+21A>G
ENST00000302850.9:c.3258+21A>G	ENSP00000303830.4:n.3258+21A>G
ENST00000341500.9:c.3222+21A>G	ENSP00000342838.4:n.3222+21A>G
ENST00000593970.1:n.104+21A>G
NM_000208.2:c.3258+21A>G	NP_000199.2:n.3258+21A>G
NM_000208.3:c.3258+21A>G	NP_000199.2:n.3258+21A>G
NM_001079817.1:c.3222+21A>G	NP_001073285.1:n.3222+21A>G
NM_001079817.2:c.3222+21A>G	NP_001073285.1:n.3222+21A>G
XM_011527988.1:c.3333+21A>G	XP_011526290.1:n.3333+21A>G
XM_011527989.1:c.3297+21A>G	XP_011526291.1:n.3297+21A>G
XM_011527988.2:c.3255+21A>G	XP_011526290.2:n.3255+21A>G
XM_011527989.3:c.3219+21A>G	XP_011526291.2:n.3219+21A>G
NM_000208.4:c.3258+21A>G MANE Select	NP_000199.2:n.3258+21A>G
NM_001079817.3:c.3222+21A>G	NP_001073285.1:n.3222+21A>G