Canonical Allele Identifier: CA403662576
Gene: INSR HGNC NCBI

Linked Data

gnomAD v4: 19-7142971-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7142971C>T , CM000681.2:g.7142971C>T GRCh38
NC_000019.9:g.7142982C>T , CM000681.1:g.7142982C>T GRCh37
NC_000019.8:g.7093982C>T NCBI36
NG_008852.2:g.156030G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.2387G>A MANE Select ENSP00000303830.4:p.Arg796Lys
ENST00000302850.9:c.2387G>A ENSP00000303830.4:p.Arg796Lys
ENST00000341500.9:c.2351G>A ENSP00000342838.4:p.Arg784Lys
ENST00000597211.1:n.70G>A
NM_000208.2:c.2387G>A NP_000199.2:p.Arg796Lys
NM_000208.3:c.2387G>A NP_000199.2:p.Arg796Lys
NM_001079817.1:c.2351G>A NP_001073285.1:p.Arg784Lys
NM_001079817.2:c.2351G>A NP_001073285.1:p.Arg784Lys
XM_011527988.1:c.2465G>A XP_011526290.1:p.Arg822Lys
XM_011527989.1:c.2429G>A XP_011526291.1:p.Arg810Lys
XM_011527988.2:c.2387G>A XP_011526290.2:p.Arg796Lys
XM_011527989.3:c.2351G>A XP_011526291.2:p.Arg784Lys
NM_000208.4:c.2387G>A MANE Select NP_000199.2:p.Arg796Lys
NM_001079817.3:c.2351G>A NP_001073285.1:p.Arg784Lys