Canonical Allele Identifier: CA884174979
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs1213149302
gnomAD v3: 19-7116990-G-C
gnomAD v4: 19-7116990-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7116990G>C , CM000681.2:g.7116990G>C GRCh38
NC_000019.9:g.7117001G>C , CM000681.1:g.7117001G>C GRCh37
NC_000019.8:g.7068001G>C NCBI36
NG_008852.2:g.182011C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.*66C>G MANE Select ENSP00000303830.4:n.*66C>G
ENST00000302850.9:c.*66C>G ENSP00000303830.4:n.*66C>G
ENST00000341500.9:c.*66C>G ENSP00000342838.4:n.*66C>G
NM_000208.2:c.*66C>G NP_000199.2:n.*66C>G
NM_000208.3:c.*66C>G NP_000199.2:n.*66C>G
NM_001079817.1:c.*66C>G NP_001073285.1:n.*66C>G
NM_001079817.2:c.*66C>G NP_001073285.1:n.*66C>G
XM_011527988.1:c.*66C>G XP_011526290.1:n.*66C>G
XM_011527989.1:c.*66C>G XP_011526291.1:n.*66C>G
XM_011527988.2:c.*66C>G XP_011526290.2:n.*66C>G
XM_011527989.3:c.*66C>G XP_011526291.2:n.*66C>G
NM_000208.4:c.*66C>G MANE Select NP_000199.2:n.*66C>G
NM_001079817.3:c.*66C>G NP_001073285.1:n.*66C>G