Canonical Allele Identifier: CA645373218

Gene: INSR

Linked Data

• PubMed: PMID:28765322

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.[7125381C>T;7170555T>C] , CM000681.2:g.[7125381C>T;7170555T>C]	GRCh38
NC_000019.9:g.[7125392C>T;7170566T>C] , CM000681.1:g.[7125392C>T;7170566T>C]	GRCh37
NC_000019.8:g.[7076392C>T;7121566T>C]	NCBI36
NG_008852.2:g.[128446A>G;173620G>A]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.[1465A>G;3160G>A] MANE Select	ENSP00000303830.4:p.[Asn489Asp;Val1054Met]
ENST00000302850.9:c.[1465A>G;3160G>A]	ENSP00000303830.4:p.[Asn489Asp;Val1054Met]
ENST00000341500.9:c.[1465A>G;3124G>A]	ENSP00000342838.4:p.[Asn489Asp;Val1042Met]
NM_000208.2:c.[1465A>G;3160G>A]	NP_000199.2:p.[Asn489Asp;Val1054Met]
NM_000208.3:c.[1465A>G;3160G>A]	NP_000199.2:p.[Asn489Asp;Val1054Met]
NM_001079817.1:c.[1465A>G;3124G>A]	NP_001073285.1:p.[Asn489Asp;Val1042Met]
NM_001079817.2:c.[1465A>G;3124G>A]	NP_001073285.1:p.[Asn489Asp;Val1042Met]
XM_011527988.1:c.[1543A>G;3235G>A]	XP_011526290.1:p.[Asn515Asp;Val1079Met]
XM_011527989.1:c.[1543A>G;3199G>A]	XP_011526291.1:p.[Asn515Asp;Val1067Met]
XM_011527988.2:c.[1465A>G;3157G>A]	XP_011526290.2:p.[Asn489Asp;Val1053Met]
XM_011527989.3:c.[1465A>G;3121G>A]	XP_011526291.2:p.[Asn489Asp;Val1041Met]
NM_000208.4:c.[1465A>G;3160G>A] MANE Select	NP_000199.2:p.[Asn489Asp;Val1054Met]
NM_001079817.3:c.[1465A>G;3124G>A]	NP_001073285.1:p.[Asn489Asp;Val1042Met]