Canonical Allele Identifier: CA124217

Gene: INSR

Linked Data

• ClinVar Variation Id: 14682
• ClinVar RCV Id: RCV000015796
• dbSNP Id: rs121913137
• MyVariant Identifiers: chr19:g.7152873G>A (hg19) ; chr19:g.7152862G>A (hg38)
• PubMed: PMID:2834824 ; PMID:27896077

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7152862G>A , CM000681.2:g.7152862G>A	GRCh38
NC_000019.9:g.7152873G>A , CM000681.1:g.7152873G>A	GRCh37
NC_000019.8:g.7103873G>A	NCBI36
NG_008852.2:g.146139C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.2095C>T MANE Select	ENSP00000303830.4:p.Gln699Ter
ENST00000302850.9:c.2095C>T	ENSP00000303830.4:p.Gln699Ter
ENST00000341500.9:c.2095C>T	ENSP00000342838.4:p.Gln699Ter
ENST00000598216.1:n.2070C>T
NM_000208.2:c.2095C>T	NP_000199.2:p.Gln699Ter
NM_000208.3:c.2095C>T	NP_000199.2:p.Gln699Ter
NM_001079817.1:c.2095C>T	NP_001073285.1:p.Gln699Ter
NM_001079817.2:c.2095C>T	NP_001073285.1:p.Gln699Ter
XM_011527988.1:c.2173C>T	XP_011526290.1:p.Gln725Ter
XM_011527989.1:c.2173C>T	XP_011526291.1:p.Gln725Ter
XM_011527988.2:c.2095C>T	XP_011526290.2:p.Gln699Ter
XM_011527989.3:c.2095C>T	XP_011526291.2:p.Gln699Ter
NM_000208.4:c.2095C>T MANE Select	NP_000199.2:p.Gln699Ter
NM_001079817.3:c.2095C>T	NP_001073285.1:p.Gln699Ter