Canonical Allele Identifier: CA403671910

Gene: INSR

Linked Data

• dbSNP Id: rs1368109949
• gnomAD v2: 19-7132175-C-A
• gnomAD v4: 19-7132164-C-A
• MyVariant Identifiers: chr19:g.7132175C>A (hg19) ; chr19:g.7132164C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7132164C>A , CM000681.2:g.7132164C>A	GRCh38
NC_000019.9:g.7132175C>A , CM000681.1:g.7132175C>A	GRCh37
NC_000019.8:g.7083175C>A	NCBI36
NG_008852.2:g.166837G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.2836G>T MANE Select	ENSP00000303830.4:p.Asp946Tyr
ENST00000302850.9:c.2836G>T	ENSP00000303830.4:p.Asp946Tyr
ENST00000341500.9:c.2800G>T	ENSP00000342838.4:p.Asp934Tyr
NM_000208.2:c.2836G>T	NP_000199.2:p.Asp946Tyr
NM_000208.3:c.2836G>T	NP_000199.2:p.Asp946Tyr
NM_001079817.1:c.2800G>T	NP_001073285.1:p.Asp934Tyr
NM_001079817.2:c.2800G>T	NP_001073285.1:p.Asp934Tyr
XM_011527988.1:c.2914G>T	XP_011526290.1:p.Asp972Tyr
XM_011527989.1:c.2878G>T	XP_011526291.1:p.Asp960Tyr
XM_011527988.2:c.2836G>T	XP_011526290.2:p.Asp946Tyr
XM_011527989.3:c.2800G>T	XP_011526291.2:p.Asp934Tyr
NM_000208.4:c.2836G>T MANE Select	NP_000199.2:p.Asp946Tyr
NM_001079817.3:c.2800G>T	NP_001073285.1:p.Asp934Tyr