Canonical Allele Identifier: CA10643414

Gene: INSR

Linked Data

• ClinVar Variation Id: 330436
• ClinVar RCV Id: RCV000297534 ; RCV000357012 ; RCV000397487
• dbSNP Id: rs1051690
• gnomAD v2: 19-7116963-T-C
• gnomAD v3: 19-7116952-T-C
• gnomAD v4: 19-7116952-T-C
• MyVariant Identifiers: chr19:g.7116963T>C (hg19) ; chr19:g.7116952T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7116952T>C , CM000681.2:g.7116952T>C	GRCh38
NC_000019.9:g.7116963T>C , CM000681.1:g.7116963T>C	GRCh37
NC_000019.8:g.7067963T>C	NCBI36
NG_008852.2:g.182049A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.*104A>G MANE Select	ENSP00000303830.4:n.*104A>G
ENST00000302850.9:c.*104A>G	ENSP00000303830.4:n.*104A>G
ENST00000341500.9:c.*104A>G	ENSP00000342838.4:n.*104A>G
NM_000208.2:c.*104A>G	NP_000199.2:n.*104A>G
NM_000208.3:c.*104A>G	NP_000199.2:n.*104A>G
NM_001079817.1:c.*104A>G	NP_001073285.1:n.*104A>G
NM_001079817.2:c.*104A>G	NP_001073285.1:n.*104A>G
XM_011527988.1:c.*104A>G	XP_011526290.1:n.*104A>G
XM_011527989.1:c.*104A>G	XP_011526291.1:n.*104A>G
XM_011527988.2:c.*104A>G	XP_011526290.2:n.*104A>G
XM_011527989.3:c.*104A>G	XP_011526291.2:n.*104A>G
NM_000208.4:c.*104A>G MANE Select	NP_000199.2:n.*104A>G
NM_001079817.3:c.*104A>G	NP_001073285.1:n.*104A>G