Canonical Allele Identifier: CA403668574

Gene: INSR

Linked Data

• dbSNP Id: rs1351238099
• gnomAD v2: 19-7117245-A-T
• gnomAD v4: 19-7117234-A-T
• MyVariant Identifiers: chr19:g.7117245A>T (hg19) ; chr19:g.7117234A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117234A>T , CM000681.2:g.7117234A>T	GRCh38
NC_000019.9:g.7117245A>T , CM000681.1:g.7117245A>T	GRCh37
NC_000019.8:g.7068245A>T	NCBI36
NG_008852.2:g.181767T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3971T>A MANE Select	ENSP00000303830.4:p.Met1324Lys
ENST00000302850.9:c.3971T>A	ENSP00000303830.4:p.Met1324Lys
ENST00000341500.9:c.3935T>A	ENSP00000342838.4:p.Met1312Lys
NM_000208.2:c.3971T>A	NP_000199.2:p.Met1324Lys
NM_000208.3:c.3971T>A	NP_000199.2:p.Met1324Lys
NM_001079817.1:c.3935T>A	NP_001073285.1:p.Met1312Lys
NM_001079817.2:c.3935T>A	NP_001073285.1:p.Met1312Lys
XM_011527988.1:c.4046T>A	XP_011526290.1:p.Met1349Lys
XM_011527989.1:c.4010T>A	XP_011526291.1:p.Met1337Lys
XM_011527988.2:c.3968T>A	XP_011526290.2:p.Met1323Lys
XM_011527989.3:c.3932T>A	XP_011526291.2:p.Met1311Lys
NM_000208.4:c.3971T>A MANE Select	NP_000199.2:p.Met1324Lys
NM_001079817.3:c.3935T>A	NP_001073285.1:p.Met1312Lys