Canonical Allele Identifier: CA2576595391
Gene: INSR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7184268C>G , CM000681.2:g.7184268C>G GRCh38
NC_000019.9:g.7184279C>G , CM000681.1:g.7184279C>G GRCh37
NC_000019.8:g.7135279C>G NCBI36
NG_008852.2:g.114733G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.974+48G>C MANE Select ENSP00000303830.4:n.974+48G>C
ENST00000302850.9:c.974+48G>C ENSP00000303830.4:n.974+48G>C
ENST00000341500.9:c.974+48G>C ENSP00000342838.4:n.974+48G>C
ENST00000598216.1:n.949+48G>C
NM_000208.2:c.974+48G>C NP_000199.2:n.974+48G>C
NM_000208.3:c.974+48G>C NP_000199.2:n.974+48G>C
NM_001079817.1:c.974+48G>C NP_001073285.1:n.974+48G>C
NM_001079817.2:c.974+48G>C NP_001073285.1:n.974+48G>C
XM_011527988.1:c.1052+48G>C XP_011526290.1:n.1052+48G>C
XM_011527989.1:c.1052+48G>C XP_011526291.1:n.1052+48G>C
XM_011527988.2:c.974+48G>C XP_011526290.2:n.974+48G>C
XM_011527989.3:c.974+48G>C XP_011526291.2:n.974+48G>C
NM_000208.4:c.974+48G>C MANE Select NP_000199.2:n.974+48G>C
NM_001079817.3:c.974+48G>C NP_001073285.1:n.974+48G>C