Canonical Allele Identifier: CA403671262
Gene: INSR HGNC NCBI

Linked Data

gnomAD v4: 19-7125419-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7125419T>C , CM000681.2:g.7125419T>C GRCh38
NC_000019.9:g.7125430T>C , CM000681.1:g.7125430T>C GRCh37
NC_000019.8:g.7076430T>C NCBI36
NG_008852.2:g.173582A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.3122A>G MANE Select ENSP00000303830.4:p.Asn1041Ser
ENST00000302850.9:c.3122A>G ENSP00000303830.4:p.Asn1041Ser
ENST00000341500.9:c.3086A>G ENSP00000342838.4:p.Asn1029Ser
NM_000208.2:c.3122A>G NP_000199.2:p.Asn1041Ser
NM_000208.3:c.3122A>G NP_000199.2:p.Asn1041Ser
NM_001079817.1:c.3086A>G NP_001073285.1:p.Asn1029Ser
NM_001079817.2:c.3086A>G NP_001073285.1:p.Asn1029Ser
XM_011527988.1:c.3197A>G XP_011526290.1:p.Asn1066Ser
XM_011527989.1:c.3161A>G XP_011526291.1:p.Asn1054Ser
XM_011527988.2:c.3119A>G XP_011526290.2:p.Asn1040Ser
XM_011527989.3:c.3083A>G XP_011526291.2:p.Asn1028Ser
NM_000208.4:c.3122A>G MANE Select NP_000199.2:p.Asn1041Ser
NM_001079817.3:c.3086A>G NP_001073285.1:p.Asn1029Ser