Canonical Allele Identifier: CA403668205

Gene: INSR

Linked Data

• gnomAD v4: 19-7117063-G-A
• MyVariant Identifiers: chr19:g.7117074G>A (hg19) ; chr19:g.7117063G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117063G>A , CM000681.2:g.7117063G>A	GRCh38
NC_000019.9:g.7117074G>A , CM000681.1:g.7117074G>A	GRCh37
NC_000019.8:g.7068074G>A	NCBI36
NG_008852.2:g.181938C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.4142C>T MANE Select	ENSP00000303830.4:p.Pro1381Leu
ENST00000302850.9:c.4142C>T	ENSP00000303830.4:p.Pro1381Leu
ENST00000341500.9:c.4106C>T	ENSP00000342838.4:p.Pro1369Leu
NM_000208.2:c.4142C>T	NP_000199.2:p.Pro1381Leu
NM_000208.3:c.4142C>T	NP_000199.2:p.Pro1381Leu
NM_001079817.1:c.4106C>T	NP_001073285.1:p.Pro1369Leu
NM_001079817.2:c.4106C>T	NP_001073285.1:p.Pro1369Leu
XM_011527988.1:c.4217C>T	XP_011526290.1:p.Pro1406Leu
XM_011527989.1:c.4181C>T	XP_011526291.1:p.Pro1394Leu
XM_011527988.2:c.4139C>T	XP_011526290.2:p.Pro1380Leu
XM_011527989.3:c.4103C>T	XP_011526291.2:p.Pro1368Leu
NM_000208.4:c.4142C>T MANE Select	NP_000199.2:p.Pro1381Leu
NM_001079817.3:c.4106C>T	NP_001073285.1:p.Pro1369Leu