Canonical Allele Identifier: CA403671265
Gene: INSR HGNC NCBI

Linked Data

gnomAD v4: 19-7125420-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7125420T>C , CM000681.2:g.7125420T>C GRCh38
NC_000019.9:g.7125431T>C , CM000681.1:g.7125431T>C GRCh37
NC_000019.8:g.7076431T>C NCBI36
NG_008852.2:g.173581A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.3121A>G MANE Select ENSP00000303830.4:p.Asn1041Asp
ENST00000302850.9:c.3121A>G ENSP00000303830.4:p.Asn1041Asp
ENST00000341500.9:c.3085A>G ENSP00000342838.4:p.Asn1029Asp
NM_000208.2:c.3121A>G NP_000199.2:p.Asn1041Asp
NM_000208.3:c.3121A>G NP_000199.2:p.Asn1041Asp
NM_001079817.1:c.3085A>G NP_001073285.1:p.Asn1029Asp
NM_001079817.2:c.3085A>G NP_001073285.1:p.Asn1029Asp
XM_011527988.1:c.3196A>G XP_011526290.1:p.Asn1066Asp
XM_011527989.1:c.3160A>G XP_011526291.1:p.Asn1054Asp
XM_011527988.2:c.3118A>G XP_011526290.2:p.Asn1040Asp
XM_011527989.3:c.3082A>G XP_011526291.2:p.Asn1028Asp
NM_000208.4:c.3121A>G MANE Select NP_000199.2:p.Asn1041Asp
NM_001079817.3:c.3085A>G NP_001073285.1:p.Asn1029Asp