Canonical Allele Identifier: CA9135175

Gene: INSR

Linked Data

• dbSNP Id: rs777917515
• ExAC: 19:7119594 C / T
• gnomAD v2: 19-7119594-C-T
• gnomAD v3: 19-7119583-C-T
• gnomAD v4: 19-7119583-C-T
• MyVariant Identifiers: chr19:g.7119594C>T (hg19) ; chr19:g.7119583C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7119583C>T , CM000681.2:g.7119583C>T	GRCh38
NC_000019.9:g.7119594C>T , CM000681.1:g.7119594C>T	GRCh37
NC_000019.8:g.7070594C>T	NCBI36
NG_008852.2:g.179418G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.3660G>A MANE Select	ENSP00000303830.4:p.Trp1220Ter
ENST00000302850.9:c.3660G>A	ENSP00000303830.4:p.Trp1220Ter
ENST00000341500.9:c.3624G>A	ENSP00000342838.4:p.Trp1208Ter
NM_000208.2:c.3660G>A	NP_000199.2:p.Trp1220Ter
NM_000208.3:c.3660G>A	NP_000199.2:p.Trp1220Ter
NM_001079817.1:c.3624G>A	NP_001073285.1:p.Trp1208Ter
NM_001079817.2:c.3624G>A	NP_001073285.1:p.Trp1208Ter
XM_011527988.1:c.3735G>A	XP_011526290.1:p.Trp1245Ter
XM_011527989.1:c.3699G>A	XP_011526291.1:p.Trp1233Ter
XM_011527988.2:c.3657G>A	XP_011526290.2:p.Trp1219Ter
XM_011527989.3:c.3621G>A	XP_011526291.2:p.Trp1207Ter
NM_000208.4:c.3660G>A MANE Select	NP_000199.2:p.Trp1220Ter
NM_001079817.3:c.3624G>A	NP_001073285.1:p.Trp1208Ter