Canonical Allele Identifier: CA304866117
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs1029090494
gnomAD v2: 19-7117035-A-C
gnomAD v3: 19-7117024-A-C
gnomAD v4: 19-7117024-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7117024A>C , CM000681.2:g.7117024A>C GRCh38
NC_000019.9:g.7117035A>C , CM000681.1:g.7117035A>C GRCh37
NC_000019.8:g.7068035A>C NCBI36
NG_008852.2:g.181977T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.*32T>G MANE Select ENSP00000303830.4:n.*32T>G
ENST00000302850.9:c.*32T>G ENSP00000303830.4:n.*32T>G
ENST00000341500.9:c.*32T>G ENSP00000342838.4:n.*32T>G
NM_000208.2:c.*32T>G NP_000199.2:n.*32T>G
NM_000208.3:c.*32T>G NP_000199.2:n.*32T>G
NM_001079817.1:c.*32T>G NP_001073285.1:n.*32T>G
NM_001079817.2:c.*32T>G NP_001073285.1:n.*32T>G
XM_011527988.1:c.*32T>G XP_011526290.1:n.*32T>G
XM_011527989.1:c.*32T>G XP_011526291.1:n.*32T>G
XM_011527988.2:c.*32T>G XP_011526290.2:n.*32T>G
XM_011527989.3:c.*32T>G XP_011526291.2:n.*32T>G
NM_000208.4:c.*32T>G MANE Select NP_000199.2:n.*32T>G
NM_001079817.3:c.*32T>G NP_001073285.1:n.*32T>G