Canonical Allele Identifier: CA304878602
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs533925816
gnomAD v2: 19-7132395-G-A
gnomAD v3: 19-7132384-G-A
gnomAD v4: 19-7132384-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7132384G>A , CM000681.2:g.7132384G>A GRCh38
NC_000019.9:g.7132395G>A , CM000681.1:g.7132395G>A GRCh37
NC_000019.8:g.7083395G>A NCBI36
NG_008852.2:g.166617C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.2683-67C>T MANE Select ENSP00000303830.4:n.2683-67C>T
ENST00000302850.9:c.2683-67C>T ENSP00000303830.4:n.2683-67C>T
ENST00000341500.9:c.2647-67C>T ENSP00000342838.4:n.2647-67C>T
NM_000208.2:c.2683-67C>T NP_000199.2:n.2683-67C>T
NM_000208.3:c.2683-67C>T NP_000199.2:n.2683-67C>T
NM_001079817.1:c.2647-67C>T NP_001073285.1:n.2647-67C>T
NM_001079817.2:c.2647-67C>T NP_001073285.1:n.2647-67C>T
XM_011527988.1:c.2761-67C>T XP_011526290.1:n.2761-67C>T
XM_011527989.1:c.2725-67C>T XP_011526291.1:n.2725-67C>T
XM_011527988.2:c.2683-67C>T XP_011526290.2:n.2683-67C>T
XM_011527989.3:c.2647-67C>T XP_011526291.2:n.2647-67C>T
NM_000208.4:c.2683-67C>T MANE Select NP_000199.2:n.2683-67C>T
NM_001079817.3:c.2647-67C>T NP_001073285.1:n.2647-67C>T