Canonical Allele Identifier: CA403671215
Gene: INSR HGNC NCBI

Linked Data

gnomAD v4: 19-7125399-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7125399C>T , CM000681.2:g.7125399C>T GRCh38
NC_000019.9:g.7125410C>T , CM000681.1:g.7125410C>T GRCh37
NC_000019.8:g.7076410C>T NCBI36
NG_008852.2:g.173602G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.3142G>A MANE Select ENSP00000303830.4:p.Gly1048Ser
ENST00000302850.9:c.3142G>A ENSP00000303830.4:p.Gly1048Ser
ENST00000341500.9:c.3106G>A ENSP00000342838.4:p.Gly1036Ser
NM_000208.2:c.3142G>A NP_000199.2:p.Gly1048Ser
NM_000208.3:c.3142G>A NP_000199.2:p.Gly1048Ser
NM_001079817.1:c.3106G>A NP_001073285.1:p.Gly1036Ser
NM_001079817.2:c.3106G>A NP_001073285.1:p.Gly1036Ser
XM_011527988.1:c.3217G>A XP_011526290.1:p.Gly1073Ser
XM_011527989.1:c.3181G>A XP_011526291.1:p.Gly1061Ser
XM_011527988.2:c.3139G>A XP_011526290.2:p.Gly1047Ser
XM_011527989.3:c.3103G>A XP_011526291.2:p.Gly1035Ser
NM_000208.4:c.3142G>A MANE Select NP_000199.2:p.Gly1048Ser
NM_001079817.3:c.3106G>A NP_001073285.1:p.Gly1036Ser