Canonical Allele Identifier: CA403668499
Gene: INSR HGNC NCBI

Linked Data

gnomAD v4: 19-7117199-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7117199G>T , CM000681.2:g.7117199G>T GRCh38
NC_000019.9:g.7117210G>T , CM000681.1:g.7117210G>T GRCh37
NC_000019.8:g.7068210G>T NCBI36
NG_008852.2:g.181802C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.4006C>A MANE Select ENSP00000303830.4:p.Gln1336Lys
ENST00000302850.9:c.4006C>A ENSP00000303830.4:p.Gln1336Lys
ENST00000341500.9:c.3970C>A ENSP00000342838.4:p.Gln1324Lys
NM_000208.2:c.4006C>A NP_000199.2:p.Gln1336Lys
NM_000208.3:c.4006C>A NP_000199.2:p.Gln1336Lys
NM_001079817.1:c.3970C>A NP_001073285.1:p.Gln1324Lys
NM_001079817.2:c.3970C>A NP_001073285.1:p.Gln1324Lys
XM_011527988.1:c.4081C>A XP_011526290.1:p.Gln1361Lys
XM_011527989.1:c.4045C>A XP_011526291.1:p.Gln1349Lys
XM_011527988.2:c.4003C>A XP_011526290.2:p.Gln1335Lys
XM_011527989.3:c.3967C>A XP_011526291.2:p.Gln1323Lys
NM_000208.4:c.4006C>A MANE Select NP_000199.2:p.Gln1336Lys
NM_001079817.3:c.3970C>A NP_001073285.1:p.Gln1324Lys