Canonical Allele Identifier: CA505217363
Gene: INSR HGNC NCBI

Linked Data

gnomAD v4: 19-7128860-C-G
MyVariant Identifiers: chr19:g.7128871C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7128860C>G , CM000681.2:g.7128860C>G GRCh38
NC_000019.9:g.7128871C>G , CM000681.1:g.7128871C>G GRCh37
NC_000019.8:g.7079871C>G NCBI36
NG_008852.2:g.170141G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.2937G>C MANE Select ENSP00000303830.4:p.Leu979=
ENST00000302850.9:c.2937G>C ENSP00000303830.4:p.Leu979=
ENST00000341500.9:c.2901G>C ENSP00000342838.4:p.Leu967=
NM_000208.2:c.2937G>C NP_000199.2:p.Leu979=
NM_000208.3:c.2937G>C NP_000199.2:p.Leu979=
NM_001079817.1:c.2901G>C NP_001073285.1:p.Leu967=
NM_001079817.2:c.2901G>C NP_001073285.1:p.Leu967=
XM_011527988.1:c.3012G>C XP_011526290.1:p.Leu1004=
XM_011527989.1:c.2976G>C XP_011526291.1:p.Leu992=
XM_011527988.2:c.2934G>C XP_011526290.2:p.Leu978=
XM_011527989.3:c.2898G>C XP_011526291.2:p.Leu966=
NM_000208.4:c.2937G>C MANE Select NP_000199.2:p.Leu979=
NM_001079817.3:c.2901G>C NP_001073285.1:p.Leu967=