Canonical Allele Identifier: CA403668612

Gene: INSR

Linked Data

• gnomAD v4: 19-7117249-A-G
• MyVariant Identifiers: chr19:g.7117260A>G (hg19) ; chr19:g.7117249A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117249A>G , CM000681.2:g.7117249A>G	GRCh38
NC_000019.9:g.7117260A>G , CM000681.1:g.7117260A>G	GRCh37
NC_000019.8:g.7068260A>G	NCBI36
NG_008852.2:g.181752T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3956T>C MANE Select	ENSP00000303830.4:p.Met1319Thr
ENST00000302850.9:c.3956T>C	ENSP00000303830.4:p.Met1319Thr
ENST00000341500.9:c.3920T>C	ENSP00000342838.4:p.Met1307Thr
NM_000208.2:c.3956T>C	NP_000199.2:p.Met1319Thr
NM_000208.3:c.3956T>C	NP_000199.2:p.Met1319Thr
NM_001079817.1:c.3920T>C	NP_001073285.1:p.Met1307Thr
NM_001079817.2:c.3920T>C	NP_001073285.1:p.Met1307Thr
XM_011527988.1:c.4031T>C	XP_011526290.1:p.Met1344Thr
XM_011527989.1:c.3995T>C	XP_011526291.1:p.Met1332Thr
XM_011527988.2:c.3953T>C	XP_011526290.2:p.Met1318Thr
XM_011527989.3:c.3917T>C	XP_011526291.2:p.Met1306Thr
NM_000208.4:c.3956T>C MANE Select	NP_000199.2:p.Met1319Thr
NM_001079817.3:c.3920T>C	NP_001073285.1:p.Met1307Thr