Canonical Allele Identifier: CA304866592

Gene: INSR

Linked Data

• dbSNP Id: rs559399455
• gnomAD v4: 19-7117309-G-A
• COSMIC: COSM5904001 ; COSM5904002
• MyVariant Identifiers: chr19:g.7117320G>A (hg19) ; chr19:g.7117309G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117309G>A , CM000681.2:g.7117309G>A	GRCh38
NC_000019.9:g.7117320G>A , CM000681.1:g.7117320G>A	GRCh37
NC_000019.8:g.7068320G>A	NCBI36
NG_008852.2:g.181692C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3896C>T MANE Select	ENSP00000303830.4:p.Pro1299Leu
ENST00000302850.9:c.3896C>T	ENSP00000303830.4:p.Pro1299Leu
ENST00000341500.9:c.3860C>T	ENSP00000342838.4:p.Pro1287Leu
NM_000208.2:c.3896C>T	NP_000199.2:p.Pro1299Leu
NM_000208.3:c.3896C>T	NP_000199.2:p.Pro1299Leu
NM_001079817.1:c.3860C>T	NP_001073285.1:p.Pro1287Leu
NM_001079817.2:c.3860C>T	NP_001073285.1:p.Pro1287Leu
XM_011527988.1:c.3971C>T	XP_011526290.1:p.Pro1324Leu
XM_011527989.1:c.3935C>T	XP_011526291.1:p.Pro1312Leu
XM_011527988.2:c.3893C>T	XP_011526290.2:p.Pro1298Leu
XM_011527989.3:c.3857C>T	XP_011526291.2:p.Pro1286Leu
NM_000208.4:c.3896C>T MANE Select	NP_000199.2:p.Pro1299Leu
NM_001079817.3:c.3860C>T	NP_001073285.1:p.Pro1287Leu