Canonical Allele Identifier: CA403668576

Gene: INSR

Linked Data

• dbSNP Id: rs1436625087
• gnomAD v2: 19-7117246-T-A
• gnomAD v4: 19-7117235-T-A
• MyVariant Identifiers: chr19:g.7117246T>A (hg19) ; chr19:g.7117235T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117235T>A , CM000681.2:g.7117235T>A	GRCh38
NC_000019.9:g.7117246T>A , CM000681.1:g.7117246T>A	GRCh37
NC_000019.8:g.7068246T>A	NCBI36
NG_008852.2:g.181766A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3970A>T MANE Select	ENSP00000303830.4:p.Met1324Leu
ENST00000302850.9:c.3970A>T	ENSP00000303830.4:p.Met1324Leu
ENST00000341500.9:c.3934A>T	ENSP00000342838.4:p.Met1312Leu
NM_000208.2:c.3970A>T	NP_000199.2:p.Met1324Leu
NM_000208.3:c.3970A>T	NP_000199.2:p.Met1324Leu
NM_001079817.1:c.3934A>T	NP_001073285.1:p.Met1312Leu
NM_001079817.2:c.3934A>T	NP_001073285.1:p.Met1312Leu
XM_011527988.1:c.4045A>T	XP_011526290.1:p.Met1349Leu
XM_011527989.1:c.4009A>T	XP_011526291.1:p.Met1337Leu
XM_011527988.2:c.3967A>T	XP_011526290.2:p.Met1323Leu
XM_011527989.3:c.3931A>T	XP_011526291.2:p.Met1311Leu
NM_000208.4:c.3970A>T MANE Select	NP_000199.2:p.Met1324Leu
NM_001079817.3:c.3934A>T	NP_001073285.1:p.Met1312Leu