Canonical Allele Identifier: CA403669906

Gene: INSR

Linked Data

• ClinVar Variation Id: 1336529
• ClinVar RCV Id: RCV001817484
• dbSNP Id: rs2144988797
• MyVariant Identifiers: chr19:g.7184450C>T (hg19) ; chr19:g.7184439C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7184439C>T , CM000681.2:g.7184439C>T	GRCh38
NC_000019.9:g.7184450C>T , CM000681.1:g.7184450C>T	GRCh37
NC_000019.8:g.7135450C>T	NCBI36
NG_008852.2:g.114562G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.851G>A MANE Select	ENSP00000303830.4:p.Ser284Asn
ENST00000302850.9:c.851G>A	ENSP00000303830.4:p.Ser284Asn
ENST00000341500.9:c.851G>A	ENSP00000342838.4:p.Ser284Asn
ENST00000598216.1:n.826G>A
NM_000208.2:c.851G>A	NP_000199.2:p.Ser284Asn
NM_000208.3:c.851G>A	NP_000199.2:p.Ser284Asn
NM_001079817.1:c.851G>A	NP_001073285.1:p.Ser284Asn
NM_001079817.2:c.851G>A	NP_001073285.1:p.Ser284Asn
XM_011527988.1:c.929G>A	XP_011526290.1:p.Ser310Asn
XM_011527989.1:c.929G>A	XP_011526291.1:p.Ser310Asn
XM_011527988.2:c.851G>A	XP_011526290.2:p.Ser284Asn
XM_011527989.3:c.851G>A	XP_011526291.2:p.Ser284Asn
NM_000208.4:c.851G>A MANE Select	NP_000199.2:p.Ser284Asn
NM_001079817.3:c.851G>A	NP_001073285.1:p.Ser284Asn