Canonical Allele Identifier: CA304866085

Gene: INSR

Linked Data

• ClinVar Variation Id: 893832
• ClinVar RCV Id: RCV001132908 ; RCV001132909 ; RCV001132910
• dbSNP Id: rs1030133375
• gnomAD v2: 19-7116970-T-C
• gnomAD v3: 19-7116959-T-C
• gnomAD v4: 19-7116959-T-C
• MyVariant Identifiers: chr19:g.7116970T>C (hg19) ; chr19:g.7116959T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7116959T>C , CM000681.2:g.7116959T>C	GRCh38
NC_000019.9:g.7116970T>C , CM000681.1:g.7116970T>C	GRCh37
NC_000019.8:g.7067970T>C	NCBI36
NG_008852.2:g.182042A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.*97A>G MANE Select	ENSP00000303830.4:n.*97A>G
ENST00000302850.9:c.*97A>G	ENSP00000303830.4:n.*97A>G
ENST00000341500.9:c.*97A>G	ENSP00000342838.4:n.*97A>G
NM_000208.2:c.*97A>G	NP_000199.2:n.*97A>G
NM_000208.3:c.*97A>G	NP_000199.2:n.*97A>G
NM_001079817.1:c.*97A>G	NP_001073285.1:n.*97A>G
NM_001079817.2:c.*97A>G	NP_001073285.1:n.*97A>G
XM_011527988.1:c.*97A>G	XP_011526290.1:n.*97A>G
XM_011527989.1:c.*97A>G	XP_011526291.1:n.*97A>G
XM_011527988.2:c.*97A>G	XP_011526290.2:n.*97A>G
XM_011527989.3:c.*97A>G	XP_011526291.2:n.*97A>G
NM_000208.4:c.*97A>G MANE Select	NP_000199.2:n.*97A>G
NM_001079817.3:c.*97A>G	NP_001073285.1:n.*97A>G