Canonical Allele Identifier: CA631680911

Gene: INSR

Linked Data

• dbSNP Id: rs1975292618
• gnomAD v2: 19-7212071-C-CCCAA
• gnomAD v3: 19-7212060-C-CCCAA
• gnomAD v4: 19-7212060-C-CCCAA
• MyVariant Identifiers: chr19:g.7212071_7212072insCCAA (hg19) ; chr19:g.7212060_7212061insCCAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7212060_7212061insCCAA , CM000681.2:g.7212060_7212061insCCAA	GRCh38
NC_000019.9:g.7212071_7212072insCCAA , CM000681.1:g.7212071_7212072insCCAA	GRCh37
NC_000019.8:g.7163071_7163072insCCAA	NCBI36
NG_008852.2:g.86940_86941insTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.653-27424_653-27423insTTGG MANE Select	ENSP00000303830.4:n.653-27424_653-27423insTTGG
ENST00000302850.9:c.653-27424_653-27423insTTGG	ENSP00000303830.4:n.653-27424_653-27423insTTGG
ENST00000341500.9:c.653-27424_653-27423insTTGG	ENSP00000342838.4:n.653-27424_653-27423insTTGG
ENST00000598216.1:n.628-27424_628-27423insTTGG
NM_000208.2:c.653-27424_653-27423insTTGG	NP_000199.2:n.653-27424_653-27423insTTGG
NM_000208.3:c.653-27424_653-27423insTTGG	NP_000199.2:n.653-27424_653-27423insTTGG
NM_001079817.1:c.653-27424_653-27423insTTGG	NP_001073285.1:n.653-27424_653-27423insTTGG
NM_001079817.2:c.653-27424_653-27423insTTGG	NP_001073285.1:n.653-27424_653-27423insTTGG
XM_011527988.1:c.731-27424_731-27423insTTGG	XP_011526290.1:n.731-27424_731-27423insTTGG
XM_011527989.1:c.731-27424_731-27423insTTGG	XP_011526291.1:n.731-27424_731-27423insTTGG
XM_011527988.2:c.653-27424_653-27423insTTGG	XP_011526290.2:n.653-27424_653-27423insTTGG
XM_011527989.3:c.653-27424_653-27423insTTGG	XP_011526291.2:n.653-27424_653-27423insTTGG
NM_000208.4:c.653-27424_653-27423insTTGG MANE Select	NP_000199.2:n.653-27424_653-27423insTTGG
NM_001079817.3:c.653-27424_653-27423insTTGG	NP_001073285.1:n.653-27424_653-27423insTTGG