Canonical Allele Identifier: CA403671418
Gene: INSR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7125494C>A , CM000681.2:g.7125494C>A GRCh38
NC_000019.9:g.7125505C>A , CM000681.1:g.7125505C>A GRCh37
NC_000019.8:g.7076505C>A NCBI36
NG_008852.2:g.173507G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.3047G>T MANE Select ENSP00000303830.4:p.Trp1016Leu
ENST00000302850.9:c.3047G>T ENSP00000303830.4:p.Trp1016Leu
ENST00000341500.9:c.3011G>T ENSP00000342838.4:p.Trp1004Leu
NM_000208.2:c.3047G>T NP_000199.2:p.Trp1016Leu
NM_000208.3:c.3047G>T NP_000199.2:p.Trp1016Leu
NM_001079817.1:c.3011G>T NP_001073285.1:p.Trp1004Leu
NM_001079817.2:c.3011G>T NP_001073285.1:p.Trp1004Leu
XM_011527988.1:c.3122G>T XP_011526290.1:p.Trp1041Leu
XM_011527989.1:c.3086G>T XP_011526291.1:p.Trp1029Leu
XM_011527988.2:c.3044G>T XP_011526290.2:p.Trp1015Leu
XM_011527989.3:c.3008G>T XP_011526291.2:p.Trp1003Leu
NM_000208.4:c.3047G>T MANE Select NP_000199.2:p.Trp1016Leu
NM_001079817.3:c.3011G>T NP_001073285.1:p.Trp1004Leu