Canonical Allele Identifier: CA993113715
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs1972342497
gnomAD v3: 19-7116924-A-C
gnomAD v4: 19-7116924-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7116924A>C , CM000681.2:g.7116924A>C GRCh38
NC_000019.9:g.7116935A>C , CM000681.1:g.7116935A>C GRCh37
NC_000019.8:g.7067935A>C NCBI36
NG_008852.2:g.182077T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.*132T>G MANE Select ENSP00000303830.4:n.*132T>G
ENST00000302850.9:c.*132T>G ENSP00000303830.4:n.*132T>G
ENST00000341500.9:c.*132T>G ENSP00000342838.4:n.*132T>G
NM_000208.2:c.*132T>G NP_000199.2:n.*132T>G
NM_000208.3:c.*132T>G NP_000199.2:n.*132T>G
NM_001079817.1:c.*132T>G NP_001073285.1:n.*132T>G
NM_001079817.2:c.*132T>G NP_001073285.1:n.*132T>G
XM_011527988.1:c.*132T>G XP_011526290.1:n.*132T>G
XM_011527989.1:c.*132T>G XP_011526291.1:n.*132T>G
XM_011527988.2:c.*132T>G XP_011526290.2:n.*132T>G
XM_011527989.3:c.*132T>G XP_011526291.2:n.*132T>G
NM_000208.4:c.*132T>G MANE Select NP_000199.2:n.*132T>G
NM_001079817.3:c.*132T>G NP_001073285.1:n.*132T>G