Canonical Allele Identifier: CA884177419

Gene: INSR

Linked Data

• dbSNP Id: rs1252631139
• gnomAD v3: 19-7166611-ATC-A
• gnomAD v4: 19-7166611-ATC-A
• MyVariant Identifiers: chr19:g.7166623_7166624del (hg19) ; chr19:g.7166612_7166613del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7166612_7166613del , CM000681.2:g.7166612_7166613del	GRCh38
NC_000019.9:g.7166623_7166624del , CM000681.1:g.7166623_7166624del	GRCh37
NC_000019.8:g.7117623_7117624del	NCBI36
NG_008852.2:g.132388_132389del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.1611-209_1611-208del MANE Select	ENSP00000303830.4:n.1611-209_1611-208del
ENST00000302850.9:c.1611-209_1611-208del	ENSP00000303830.4:n.1611-209_1611-208del
ENST00000341500.9:c.1611-209_1611-208del	ENSP00000342838.4:n.1611-209_1611-208del
ENST00000598216.1:n.1586-209_1586-208del
ENST00000600492.1:c.12-209_12-208del	ENSP00000473170.1:n.12-209_12-208del
NM_000208.2:c.1611-209_1611-208del	NP_000199.2:n.1611-209_1611-208del
NM_000208.3:c.1611-209_1611-208del	NP_000199.2:n.1611-209_1611-208del
NM_001079817.1:c.1611-209_1611-208del	NP_001073285.1:n.1611-209_1611-208del
NM_001079817.2:c.1611-209_1611-208del	NP_001073285.1:n.1611-209_1611-208del
XM_011527988.1:c.1689-209_1689-208del	XP_011526290.1:n.1689-209_1689-208del
XM_011527989.1:c.1689-209_1689-208del	XP_011526291.1:n.1689-209_1689-208del
XM_011527988.2:c.1611-209_1611-208del	XP_011526290.2:n.1611-209_1611-208del
XM_011527989.3:c.1611-209_1611-208del	XP_011526291.2:n.1611-209_1611-208del
NM_000208.4:c.1611-209_1611-208del MANE Select	NP_000199.2:n.1611-209_1611-208del
NM_001079817.3:c.1611-209_1611-208del	NP_001073285.1:n.1611-209_1611-208del