Canonical Allele Identifier: CA9135963

Gene: INSR

Linked Data

• dbSNP Id: rs545259814
• ExAC: 19:7184279 C / T
• gnomAD v2: 19-7184279-C-T
• gnomAD v3: 19-7184268-C-T
• gnomAD v4: 19-7184268-C-T
• MyVariant Identifiers: chr19:g.7184279C>T (hg19) ; chr19:g.7184268C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7184268C>T , CM000681.2:g.7184268C>T	GRCh38
NC_000019.9:g.7184279C>T , CM000681.1:g.7184279C>T	GRCh37
NC_000019.8:g.7135279C>T	NCBI36
NG_008852.2:g.114733G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.974+48G>A MANE Select	ENSP00000303830.4:n.974+48G>A
ENST00000302850.9:c.974+48G>A	ENSP00000303830.4:n.974+48G>A
ENST00000341500.9:c.974+48G>A	ENSP00000342838.4:n.974+48G>A
ENST00000598216.1:n.949+48G>A
NM_000208.2:c.974+48G>A	NP_000199.2:n.974+48G>A
NM_000208.3:c.974+48G>A	NP_000199.2:n.974+48G>A
NM_001079817.1:c.974+48G>A	NP_001073285.1:n.974+48G>A
NM_001079817.2:c.974+48G>A	NP_001073285.1:n.974+48G>A
XM_011527988.1:c.1052+48G>A	XP_011526290.1:n.1052+48G>A
XM_011527989.1:c.1052+48G>A	XP_011526291.1:n.1052+48G>A
XM_011527988.2:c.974+48G>A	XP_011526290.2:n.974+48G>A
XM_011527989.3:c.974+48G>A	XP_011526291.2:n.974+48G>A
NM_000208.4:c.974+48G>A MANE Select	NP_000199.2:n.974+48G>A
NM_001079817.3:c.974+48G>A	NP_001073285.1:n.974+48G>A