Canonical Allele Identifier: CA403667794
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs1413967419
gnomAD v3: 19-7172406-G-T
gnomAD v4: 19-7172406-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7172406G>T , CM000681.2:g.7172406G>T GRCh38
NC_000019.9:g.7172417G>T , CM000681.1:g.7172417G>T GRCh37
NC_000019.8:g.7123417G>T NCBI36
NG_008852.2:g.126595C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.1152C>A MANE Select ENSP00000303830.4:p.Asn384Lys
ENST00000302850.9:c.1152C>A ENSP00000303830.4:p.Asn384Lys
ENST00000341500.9:c.1152C>A ENSP00000342838.4:p.Asn384Lys
ENST00000598216.1:n.1127C>A
NM_000208.2:c.1152C>A NP_000199.2:p.Asn384Lys
NM_000208.3:c.1152C>A NP_000199.2:p.Asn384Lys
NM_001079817.1:c.1152C>A NP_001073285.1:p.Asn384Lys
NM_001079817.2:c.1152C>A NP_001073285.1:p.Asn384Lys
XM_011527988.1:c.1230C>A XP_011526290.1:p.Asn410Lys
XM_011527989.1:c.1230C>A XP_011526291.1:p.Asn410Lys
XM_011527988.2:c.1152C>A XP_011526290.2:p.Asn384Lys
XM_011527989.3:c.1152C>A XP_011526291.2:p.Asn384Lys
NM_000208.4:c.1152C>A MANE Select NP_000199.2:p.Asn384Lys
NM_001079817.3:c.1152C>A NP_001073285.1:p.Asn384Lys