Canonical Allele Identifier: CA403668572

Gene: INSR

Linked Data

• gnomAD v4: 19-7117233-C-T
• MyVariant Identifiers: chr19:g.7117244C>T (hg19) ; chr19:g.7117233C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117233C>T , CM000681.2:g.7117233C>T	GRCh38
NC_000019.9:g.7117244C>T , CM000681.1:g.7117244C>T	GRCh37
NC_000019.8:g.7068244C>T	NCBI36
NG_008852.2:g.181768G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3972G>A MANE Select	ENSP00000303830.4:p.Met1324Ile
ENST00000302850.9:c.3972G>A	ENSP00000303830.4:p.Met1324Ile
ENST00000341500.9:c.3936G>A	ENSP00000342838.4:p.Met1312Ile
NM_000208.2:c.3972G>A	NP_000199.2:p.Met1324Ile
NM_000208.3:c.3972G>A	NP_000199.2:p.Met1324Ile
NM_001079817.1:c.3936G>A	NP_001073285.1:p.Met1312Ile
NM_001079817.2:c.3936G>A	NP_001073285.1:p.Met1312Ile
XM_011527988.1:c.4047G>A	XP_011526290.1:p.Met1349Ile
XM_011527989.1:c.4011G>A	XP_011526291.1:p.Met1337Ile
XM_011527988.2:c.3969G>A	XP_011526290.2:p.Met1323Ile
XM_011527989.3:c.3933G>A	XP_011526291.2:p.Met1311Ile
NM_000208.4:c.3972G>A MANE Select	NP_000199.2:p.Met1324Ile
NM_001079817.3:c.3936G>A	NP_001073285.1:p.Met1312Ile