Canonical Allele Identifier: CA505217083

Gene: INSR

Linked Data

• dbSNP Id: rs1349822249
• gnomAD v2: 19-7122946-G-A
• gnomAD v3: 19-7122935-G-A
• gnomAD v4: 19-7122935-G-A
• MyVariant Identifiers: chr19:g.7122946G>A (hg19) ; chr19:g.7122935G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7122935G>A , CM000681.2:g.7122935G>A	GRCh38
NC_000019.9:g.7122946G>A , CM000681.1:g.7122946G>A	GRCh37
NC_000019.8:g.7073946G>A	NCBI36
NG_008852.2:g.176066C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.3313C>T MANE Select	ENSP00000303830.4:p.Leu1105=
ENST00000302850.9:c.3313C>T	ENSP00000303830.4:p.Leu1105=
ENST00000341500.9:c.3277C>T	ENSP00000342838.4:p.Leu1093=
ENST00000593970.1:n.159C>T
ENST00000601099.1:n.224C>T
NM_000208.2:c.3313C>T	NP_000199.2:p.Leu1105=
NM_000208.3:c.3313C>T	NP_000199.2:p.Leu1105=
NM_001079817.1:c.3277C>T	NP_001073285.1:p.Leu1093=
NM_001079817.2:c.3277C>T	NP_001073285.1:p.Leu1093=
XM_011527988.1:c.3388C>T	XP_011526290.1:p.Leu1130=
XM_011527989.1:c.3352C>T	XP_011526291.1:p.Leu1118=
XM_011527988.2:c.3310C>T	XP_011526290.2:p.Leu1104=
XM_011527989.3:c.3274C>T	XP_011526291.2:p.Leu1092=
NM_000208.4:c.3313C>T MANE Select	NP_000199.2:p.Leu1105=
NM_001079817.3:c.3277C>T	NP_001073285.1:p.Leu1093=