Canonical Allele Identifier: CA993107654
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs1972706343
gnomAD v3: 19-7128781-C-T
gnomAD v4: 19-7128781-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7128781C>T , CM000681.2:g.7128781C>T GRCh38
NC_000019.9:g.7128792C>T , CM000681.1:g.7128792C>T GRCh37
NC_000019.8:g.7079792C>T NCBI36
NG_008852.2:g.170220G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.2945+71G>A MANE Select ENSP00000303830.4:n.2945+71G>A
ENST00000302850.9:c.2945+71G>A ENSP00000303830.4:n.2945+71G>A
ENST00000341500.9:c.2909+71G>A ENSP00000342838.4:n.2909+71G>A
NM_000208.2:c.2945+71G>A NP_000199.2:n.2945+71G>A
NM_000208.3:c.2945+71G>A NP_000199.2:n.2945+71G>A
NM_001079817.1:c.2909+71G>A NP_001073285.1:n.2909+71G>A
NM_001079817.2:c.2909+71G>A NP_001073285.1:n.2909+71G>A
XM_011527988.1:c.3020+71G>A XP_011526290.1:n.3020+71G>A
XM_011527989.1:c.2984+71G>A XP_011526291.1:n.2984+71G>A
XM_011527988.2:c.2942+71G>A XP_011526290.2:n.2942+71G>A
XM_011527989.3:c.2906+71G>A XP_011526291.2:n.2906+71G>A
NM_000208.4:c.2945+71G>A MANE Select NP_000199.2:n.2945+71G>A
NM_001079817.3:c.2909+71G>A NP_001073285.1:n.2909+71G>A