Canonical Allele Identifier: CA2587926107
Gene: INSR HGNC NCBI

Linked Data

gnomAD v4: 19-7184182-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7184182A>G , CM000681.2:g.7184182A>G GRCh38
NC_000019.9:g.7184193A>G , CM000681.1:g.7184193A>G GRCh37
NC_000019.8:g.7135193A>G NCBI36
NG_008852.2:g.114819T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.974+134T>C MANE Select ENSP00000303830.4:n.974+134T>C
ENST00000302850.9:c.974+134T>C ENSP00000303830.4:n.974+134T>C
ENST00000341500.9:c.974+134T>C ENSP00000342838.4:n.974+134T>C
ENST00000598216.1:n.949+134T>C
NM_000208.2:c.974+134T>C NP_000199.2:n.974+134T>C
NM_000208.3:c.974+134T>C NP_000199.2:n.974+134T>C
NM_001079817.1:c.974+134T>C NP_001073285.1:n.974+134T>C
NM_001079817.2:c.974+134T>C NP_001073285.1:n.974+134T>C
XM_011527988.1:c.1052+134T>C XP_011526290.1:n.1052+134T>C
XM_011527989.1:c.1052+134T>C XP_011526291.1:n.1052+134T>C
XM_011527988.2:c.974+134T>C XP_011526290.2:n.974+134T>C
XM_011527989.3:c.974+134T>C XP_011526291.2:n.974+134T>C
NM_000208.4:c.974+134T>C MANE Select NP_000199.2:n.974+134T>C
NM_001079817.3:c.974+134T>C NP_001073285.1:n.974+134T>C