Canonical Allele Identifier: CA645373219

Gene: INSR

Linked Data

• PubMed: PMID:28765322

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.[7142833G>A;7142854C>A] , CM000681.2:g.[7142833G>A;7142854C>A]	GRCh38
NC_000019.9:g.[7142844G>A;7142865C>A] , CM000681.1:g.[7142844G>A;7142865C>A]	GRCh37
NC_000019.8:g.[7093844G>A;7093865C>A]	NCBI36
NG_008852.2:g.[156147G>T;156168C>T]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.[2504G>T;2525C>T] MANE Select	ENSP00000303830.4:p.[Ser835Ile;Ala842Val]
ENST00000302850.9:c.[2504G>T;2525C>T]	ENSP00000303830.4:p.[Ser835Ile;Ala842Val]
ENST00000341500.9:c.[2468G>T;2489C>T]	ENSP00000342838.4:p.[Ser823Ile;Ala830Val]
ENST00000597211.1:n.[187G>T;208C>T]
NM_000208.2:c.[2504G>T;2525C>T]	NP_000199.2:p.[Ser835Ile;Ala842Val]
NM_000208.3:c.[2504G>T;2525C>T]	NP_000199.2:p.[Ser835Ile;Ala842Val]
NM_001079817.1:c.[2468G>T;2489C>T]	NP_001073285.1:p.[Ser823Ile;Ala830Val]
NM_001079817.2:c.[2468G>T;2489C>T]	NP_001073285.1:p.[Ser823Ile;Ala830Val]
XM_011527988.1:c.[2582G>T;2603C>T]	XP_011526290.1:p.[Ser861Ile;Ala868Val]
XM_011527989.1:c.[2546G>T;2567C>T]	XP_011526291.1:p.[Ser849Ile;Ala856Val]
XM_011527988.2:c.[2504G>T;2525C>T]	XP_011526290.2:p.[Ser835Ile;Ala842Val]
XM_011527989.3:c.[2468G>T;2489C>T]	XP_011526291.2:p.[Ser823Ile;Ala830Val]
NM_000208.4:c.[2504G>T;2525C>T] MANE Select	NP_000199.2:p.[Ser835Ile;Ala842Val]
NM_001079817.3:c.[2468G>T;2489C>T]	NP_001073285.1:p.[Ser823Ile;Ala830Val]