Canonical Allele Identifier: CA2576595011

Gene: INSR

Linked Data

• dbSNP Id: rs2144813662
• gnomAD v3: 19-7125270-C-G
• gnomAD v4: 19-7125270-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7125270C>G , CM000681.2:g.7125270C>G	GRCh38
NC_000019.9:g.7125281C>G , CM000681.1:g.7125281C>G	GRCh37
NC_000019.8:g.7076281C>G	NCBI36
NG_008852.2:g.173731G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3258+13G>C MANE Select	ENSP00000303830.4:n.3258+13G>C
ENST00000302850.9:c.3258+13G>C	ENSP00000303830.4:n.3258+13G>C
ENST00000341500.9:c.3222+13G>C	ENSP00000342838.4:n.3222+13G>C
ENST00000593970.1:n.104+13G>C
NM_000208.2:c.3258+13G>C	NP_000199.2:n.3258+13G>C
NM_000208.3:c.3258+13G>C	NP_000199.2:n.3258+13G>C
NM_001079817.1:c.3222+13G>C	NP_001073285.1:n.3222+13G>C
NM_001079817.2:c.3222+13G>C	NP_001073285.1:n.3222+13G>C
XM_011527988.1:c.3333+13G>C	XP_011526290.1:n.3333+13G>C
XM_011527989.1:c.3297+13G>C	XP_011526291.1:n.3297+13G>C
XM_011527988.2:c.3255+13G>C	XP_011526290.2:n.3255+13G>C
XM_011527989.3:c.3219+13G>C	XP_011526291.2:n.3219+13G>C
NM_000208.4:c.3258+13G>C MANE Select	NP_000199.2:n.3258+13G>C
NM_001079817.3:c.3222+13G>C	NP_001073285.1:n.3222+13G>C