Canonical Allele Identifier: CA9135375

Gene: INSR

Linked Data

• dbSNP Id: rs769265979
• ExAC: 19:7125566 C / G
• gnomAD v2: 19-7125566-C-G
• gnomAD v4: 19-7125555-C-G
• MyVariant Identifiers: chr19:g.7125566C>G (hg19) ; chr19:g.7125555C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7125555C>G , CM000681.2:g.7125555C>G	GRCh38
NC_000019.9:g.7125566C>G , CM000681.1:g.7125566C>G	GRCh37
NC_000019.8:g.7076566C>G	NCBI36
NG_008852.2:g.173446G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3014-28G>C MANE Select	ENSP00000303830.4:n.3014-28G>C
ENST00000302850.9:c.3014-28G>C	ENSP00000303830.4:n.3014-28G>C
ENST00000341500.9:c.2978-28G>C	ENSP00000342838.4:n.2978-28G>C
NM_000208.2:c.3014-28G>C	NP_000199.2:n.3014-28G>C
NM_000208.3:c.3014-28G>C	NP_000199.2:n.3014-28G>C
NM_001079817.1:c.2978-28G>C	NP_001073285.1:n.2978-28G>C
NM_001079817.2:c.2978-28G>C	NP_001073285.1:n.2978-28G>C
XM_011527988.1:c.3089-28G>C	XP_011526290.1:n.3089-28G>C
XM_011527989.1:c.3053-28G>C	XP_011526291.1:n.3053-28G>C
XM_011527988.2:c.3011-28G>C	XP_011526290.2:n.3011-28G>C
XM_011527989.3:c.2975-28G>C	XP_011526291.2:n.2975-28G>C
NM_000208.4:c.3014-28G>C MANE Select	NP_000199.2:n.3014-28G>C
NM_001079817.3:c.2978-28G>C	NP_001073285.1:n.2978-28G>C