Canonical Allele Identifier: CA2587920785
Gene: INSR HGNC NCBI

Linked Data

gnomAD v4: 19-7116813-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7116813C>T , CM000681.2:g.7116813C>T GRCh38
NC_000019.9:g.7116824C>T , CM000681.1:g.7116824C>T GRCh37
NC_000019.8:g.7067824C>T NCBI36
NG_008852.2:g.182188G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.*243G>A MANE Select ENSP00000303830.4:n.*243G>A
ENST00000302850.9:c.*243G>A ENSP00000303830.4:n.*243G>A
ENST00000341500.9:c.*243G>A ENSP00000342838.4:n.*243G>A
NM_000208.2:c.*243G>A NP_000199.2:n.*243G>A
NM_000208.3:c.*243G>A NP_000199.2:n.*243G>A
NM_001079817.1:c.*243G>A NP_001073285.1:n.*243G>A
NM_001079817.2:c.*243G>A NP_001073285.1:n.*243G>A
XM_011527988.1:c.*243G>A XP_011526290.1:n.*243G>A
XM_011527989.1:c.*243G>A XP_011526291.1:n.*243G>A
XM_011527988.2:c.*243G>A XP_011526290.2:n.*243G>A
XM_011527989.3:c.*243G>A XP_011526291.2:n.*243G>A
NM_000208.4:c.*243G>A MANE Select NP_000199.2:n.*243G>A
NM_001079817.3:c.*243G>A NP_001073285.1:n.*243G>A
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