Canonical Allele Identifier: CA505217127
Community Standard Title: NM_000208.4(INSR):c.3261G>A (p.Val1087=)
Gene: INSR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7122987C>T , CM000681.2:g.7122987C>T GRCh38
NC_000019.9:g.7122998C>T , CM000681.1:g.7122998C>T GRCh37
NC_000019.8:g.7073998C>T NCBI36
NG_008852.2:g.176014G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000208.4:c.3261G>A MANE Select NP_000199.2:p.Val1087=
ENST00000302850.10:c.3261G>A MANE Select ENSP00000303830.4:p.Val1087=
NM_000208.2:c.3261G>A NP_000199.2:p.Val1087=
NM_000208.3:c.3261G>A NP_000199.2:p.Val1087=
NM_001079817.1:c.3225G>A NP_001073285.1:p.Val1075=
NM_001079817.2:c.3225G>A NP_001073285.1:p.Val1075=
NM_001079817.3:c.3225G>A NP_001073285.1:p.Val1075=
ENST00000302850.9:c.3261G>A ENSP00000303830.4:p.Val1087=
ENST00000341500.9:c.3225G>A ENSP00000342838.4:p.Val1075=
ENST00000593970.1:n.107G>A
ENST00000601099.1:n.172G>A
XM_011527988.1:c.3336G>A XP_011526290.1:p.Val1112=
XM_011527988.2:c.3258G>A XP_011526290.2:p.Val1086=
XM_011527989.1:c.3300G>A XP_011526291.1:p.Val1100=
XM_011527989.3:c.3222G>A XP_011526291.2:p.Val1074=