Canonical Allele Identifier: CA208388

Gene: INSR

Linked Data

• ClinVar Variation Id: 211189
• ClinVar RCV Id: RCV000194300
• dbSNP Id: rs797045624
• gnomAD v3: 19-7167966-A-G
• gnomAD v4: 19-7167966-A-G
• MyVariant Identifiers: chr19:g.7167977A>G (hg19) ; chr19:g.7167966A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7167966A>G , CM000681.2:g.7167966A>G	GRCh38
NC_000019.9:g.7167977A>G , CM000681.1:g.7167977A>G	GRCh37
NC_000019.8:g.7118977A>G	NCBI36
NG_008852.2:g.131035T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.1610+2T>C MANE Select	ENSP00000303830.4:n.1610+2T>C
ENST00000302850.9:c.1610+2T>C	ENSP00000303830.4:n.1610+2T>C
ENST00000341500.9:c.1610+2T>C	ENSP00000342838.4:n.1610+2T>C
ENST00000598216.1:n.1585+2T>C
ENST00000600492.1:c.11+2T>C	ENSP00000473170.1:n.11+2T>C
NM_000208.2:c.1610+2T>C	NP_000199.2:n.1610+2T>C
NM_000208.3:c.1610+2T>C	NP_000199.2:n.1610+2T>C
NM_001079817.1:c.1610+2T>C	NP_001073285.1:n.1610+2T>C
NM_001079817.2:c.1610+2T>C	NP_001073285.1:n.1610+2T>C
XM_011527988.1:c.1688+2T>C	XP_011526290.1:n.1688+2T>C
XM_011527989.1:c.1688+2T>C	XP_011526291.1:n.1688+2T>C
XM_011527988.2:c.1610+2T>C	XP_011526290.2:n.1610+2T>C
XM_011527989.3:c.1610+2T>C	XP_011526291.2:n.1610+2T>C
NM_000208.4:c.1610+2T>C MANE Select	NP_000199.2:n.1610+2T>C
NM_001079817.3:c.1610+2T>C	NP_001073285.1:n.1610+2T>C