Canonical Allele Identifier: CA2587921711
Gene: INSR HGNC NCBI

Linked Data

gnomAD v4: 19-7123039-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7123039C>T , CM000681.2:g.7123039C>T GRCh38
NC_000019.9:g.7123050C>T , CM000681.1:g.7123050C>T GRCh37
NC_000019.8:g.7074050C>T NCBI36
NG_008852.2:g.175962G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.3259-50G>A MANE Select ENSP00000303830.4:n.3259-50G>A
ENST00000302850.9:c.3259-50G>A ENSP00000303830.4:n.3259-50G>A
ENST00000341500.9:c.3223-50G>A ENSP00000342838.4:n.3223-50G>A
ENST00000593970.1:n.105-50G>A
ENST00000601099.1:n.120G>A
NM_000208.2:c.3259-50G>A NP_000199.2:n.3259-50G>A
NM_000208.3:c.3259-50G>A NP_000199.2:n.3259-50G>A
NM_001079817.1:c.3223-50G>A NP_001073285.1:n.3223-50G>A
NM_001079817.2:c.3223-50G>A NP_001073285.1:n.3223-50G>A
XM_011527988.1:c.3334-50G>A XP_011526290.1:n.3334-50G>A
XM_011527989.1:c.3298-50G>A XP_011526291.1:n.3298-50G>A
XM_011527988.2:c.3256-50G>A XP_011526290.2:n.3256-50G>A
XM_011527989.3:c.3220-50G>A XP_011526291.2:n.3220-50G>A
NM_000208.4:c.3259-50G>A MANE Select NP_000199.2:n.3259-50G>A
NM_001079817.3:c.3223-50G>A NP_001073285.1:n.3223-50G>A