Canonical Allele Identifier: CA9136192

Gene: INSR

Linked Data

• ClinVar Variation Id: 330480
• ClinVar RCV Id: RCV000368543 ; RCV000311715 ; RCV004544601 ; RCV002057551 ; RCV003884489 ; RCV000403417
• dbSNP Id: rs771984795
• ExAC: 19:7293864 C / G
• gnomAD v2: 19-7293864-C-G
• gnomAD v3: 19-7293853-C-G
• gnomAD v4: 19-7293853-C-G
• MyVariant Identifiers: chr19:g.7293864C>G (hg19) ; chr19:g.7293853C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7293853C>G , CM000681.2:g.7293853C>G	GRCh38
NC_000019.9:g.7293864C>G , CM000681.1:g.7293864C>G	GRCh37
NC_000019.8:g.7244864C>G	NCBI36
NG_008852.2:g.5148G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.39G>C MANE Select	ENSP00000303830.4:p.Pro13=
ENST00000302850.9:c.39G>C	ENSP00000303830.4:p.Pro13=
ENST00000341500.9:c.39G>C	ENSP00000342838.4:p.Pro13=
ENST00000598216.1:n.14G>C
NM_000208.2:c.39G>C	NP_000199.2:p.Pro13=
NM_000208.3:c.39G>C	NP_000199.2:p.Pro13=
NM_001079817.1:c.39G>C	NP_001073285.1:p.Pro13=
NM_001079817.2:c.39G>C	NP_001073285.1:p.Pro13=
XM_011527988.2:c.39G>C	XP_011526290.2:p.Pro13=
XM_011527989.3:c.39G>C	XP_011526291.2:p.Pro13=
NM_000208.4:c.39G>C MANE Select	NP_000199.2:p.Pro13=
NM_001079817.3:c.39G>C	NP_001073285.1:p.Pro13=