Canonical Allele Identifier: CA505204306
Gene: INSR HGNC NCBI

Linked Data

gnomAD v4: 19-7172340-A-C
MyVariant Identifiers: chr19:g.7172351A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7172340A>C , CM000681.2:g.7172340A>C GRCh38
NC_000019.9:g.7172351A>C , CM000681.1:g.7172351A>C GRCh37
NC_000019.8:g.7123351A>C NCBI36
NG_008852.2:g.126661T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.1218T>G MANE Select ENSP00000303830.4:p.Leu406=
ENST00000302850.9:c.1218T>G ENSP00000303830.4:p.Leu406=
ENST00000341500.9:c.1218T>G ENSP00000342838.4:p.Leu406=
ENST00000598216.1:n.1193T>G
NM_000208.2:c.1218T>G NP_000199.2:p.Leu406=
NM_000208.3:c.1218T>G NP_000199.2:p.Leu406=
NM_001079817.1:c.1218T>G NP_001073285.1:p.Leu406=
NM_001079817.2:c.1218T>G NP_001073285.1:p.Leu406=
XM_011527988.1:c.1296T>G XP_011526290.1:p.Leu432=
XM_011527989.1:c.1296T>G XP_011526291.1:p.Leu432=
XM_011527988.2:c.1218T>G XP_011526290.2:p.Leu406=
XM_011527989.3:c.1218T>G XP_011526291.2:p.Leu406=
NM_000208.4:c.1218T>G MANE Select NP_000199.2:p.Leu406=
NM_001079817.3:c.1218T>G NP_001073285.1:p.Leu406=