Canonical Allele Identifier: CA304665228

Gene: INSR

Linked Data

• ClinVar Variation Id: 894527
• ClinVar RCV Id: RCV001135443 ; RCV001135444 ; RCV001135445
• dbSNP Id: rs532052290
• gnomAD v3: 19-7293953-G-A
• gnomAD v4: 19-7293953-G-A
• MyVariant Identifiers: chr19:g.7293964G>A (hg19) ; chr19:g.7293953G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7293953G>A , CM000681.2:g.7293953G>A	GRCh38
NC_000019.9:g.7293964G>A , CM000681.1:g.7293964G>A	GRCh37
NC_000019.8:g.7244964G>A	NCBI36
NG_008852.2:g.5048C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.-62C>T MANE Select	ENSP00000303830.4:n.-62C>T
ENST00000302850.9:c.-62C>T	ENSP00000303830.4:n.-62C>T
NM_000208.2:c.-62C>T	NP_000199.2:n.-62C>T
NM_000208.3:c.-62C>T	NP_000199.2:n.-62C>T
NM_001079817.1:c.-62C>T	NP_001073285.1:n.-62C>T
NM_001079817.2:c.-62C>T	NP_001073285.1:n.-62C>T
XM_011527988.2:c.-62C>T	XP_011526290.2:n.-62C>T
XM_011527989.3:c.-62C>T	XP_011526291.2:n.-62C>T
NM_000208.4:c.-62C>T MANE Select	NP_000199.2:n.-62C>T
NM_001079817.3:c.-62C>T	NP_001073285.1:n.-62C>T