Canonical Allele Identifier: CA2587925333
Gene: INSR HGNC NCBI

Linked Data

gnomAD v4: 19-7166551-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7166551A>C , CM000681.2:g.7166551A>C GRCh38
NC_000019.9:g.7166562A>C , CM000681.1:g.7166562A>C GRCh37
NC_000019.8:g.7117562A>C NCBI36
NG_008852.2:g.132450T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.1611-147T>G MANE Select ENSP00000303830.4:n.1611-147T>G
ENST00000302850.9:c.1611-147T>G ENSP00000303830.4:n.1611-147T>G
ENST00000341500.9:c.1611-147T>G ENSP00000342838.4:n.1611-147T>G
ENST00000598216.1:n.1586-147T>G
ENST00000600492.1:c.12-147T>G ENSP00000473170.1:n.12-147T>G
NM_000208.2:c.1611-147T>G NP_000199.2:n.1611-147T>G
NM_000208.3:c.1611-147T>G NP_000199.2:n.1611-147T>G
NM_001079817.1:c.1611-147T>G NP_001073285.1:n.1611-147T>G
NM_001079817.2:c.1611-147T>G NP_001073285.1:n.1611-147T>G
XM_011527988.1:c.1689-147T>G XP_011526290.1:n.1689-147T>G
XM_011527989.1:c.1689-147T>G XP_011526291.1:n.1689-147T>G
XM_011527988.2:c.1611-147T>G XP_011526290.2:n.1611-147T>G
XM_011527989.3:c.1611-147T>G XP_011526291.2:n.1611-147T>G
NM_000208.4:c.1611-147T>G MANE Select NP_000199.2:n.1611-147T>G
NM_001079817.3:c.1611-147T>G NP_001073285.1:n.1611-147T>G