Canonical Allele Identifier: CA631693367

Gene: INSR

Linked Data

• dbSNP Id: rs1292809679
• gnomAD v2: 19-7182858-AAAAG-A
• gnomAD v3: 19-7182847-AAAAG-A
• gnomAD v4: 19-7182847-AAAAG-A
• MyVariant Identifiers: chr19:g.7182859_7182862del (hg19) ; chr19:g.7182848_7182851del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7182855_7182858del , CM000681.2:g.7182855_7182858del	GRCh38
NC_000019.9:g.7182866_7182869del , CM000681.1:g.7182866_7182869del	GRCh37
NC_000019.8:g.7133866_7133869del	NCBI36
NG_008852.2:g.116150_116153del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.974+1465_974+1468del MANE Select	ENSP00000303830.4:n.974+1465_974+1468del
ENST00000302850.9:c.974+1465_974+1468del	ENSP00000303830.4:n.974+1465_974+1468del
ENST00000341500.9:c.974+1465_974+1468del	ENSP00000342838.4:n.974+1465_974+1468del
ENST00000598216.1:n.949+1465_949+1468del
NM_000208.2:c.974+1465_974+1468del	NP_000199.2:n.974+1465_974+1468del
NM_000208.3:c.974+1465_974+1468del	NP_000199.2:n.974+1465_974+1468del
NM_001079817.1:c.974+1465_974+1468del	NP_001073285.1:n.974+1465_974+1468del
NM_001079817.2:c.974+1465_974+1468del	NP_001073285.1:n.974+1465_974+1468del
XM_011527988.1:c.1052+1465_1052+1468del	XP_011526290.1:n.1052+1465_1052+1468del
XM_011527989.1:c.1052+1465_1052+1468del	XP_011526291.1:n.1052+1465_1052+1468del
XM_011527988.2:c.974+1465_974+1468del	XP_011526290.2:n.974+1465_974+1468del
XM_011527989.3:c.974+1465_974+1468del	XP_011526291.2:n.974+1465_974+1468del
NM_000208.4:c.974+1465_974+1468del MANE Select	NP_000199.2:n.974+1465_974+1468del
NM_001079817.3:c.974+1465_974+1468del	NP_001073285.1:n.974+1465_974+1468del