Canonical Allele Identifier: CA9135317

Gene: INSR

Linked Data

• dbSNP Id: rs377724612
• ExAC: 19:7123045 C / T
• gnomAD v2: 19-7123045-C-T
• gnomAD v3: 19-7123034-C-T
• gnomAD v4: 19-7123034-C-T
• MyVariant Identifiers: chr19:g.7123045C>T (hg19) ; chr19:g.7123034C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7123034C>T , CM000681.2:g.7123034C>T	GRCh38
NC_000019.9:g.7123045C>T , CM000681.1:g.7123045C>T	GRCh37
NC_000019.8:g.7074045C>T	NCBI36
NG_008852.2:g.175967G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.3259-45G>A MANE Select	ENSP00000303830.4:n.3259-45G>A
ENST00000302850.9:c.3259-45G>A	ENSP00000303830.4:n.3259-45G>A
ENST00000341500.9:c.3223-45G>A	ENSP00000342838.4:n.3223-45G>A
ENST00000593970.1:n.105-45G>A
ENST00000601099.1:n.125G>A
NM_000208.2:c.3259-45G>A	NP_000199.2:n.3259-45G>A
NM_000208.3:c.3259-45G>A	NP_000199.2:n.3259-45G>A
NM_001079817.1:c.3223-45G>A	NP_001073285.1:n.3223-45G>A
NM_001079817.2:c.3223-45G>A	NP_001073285.1:n.3223-45G>A
XM_011527988.1:c.3334-45G>A	XP_011526290.1:n.3334-45G>A
XM_011527989.1:c.3298-45G>A	XP_011526291.1:n.3298-45G>A
XM_011527988.2:c.3256-45G>A	XP_011526290.2:n.3256-45G>A
XM_011527989.3:c.3220-45G>A	XP_011526291.2:n.3220-45G>A
NM_000208.4:c.3259-45G>A MANE Select	NP_000199.2:n.3259-45G>A
NM_001079817.3:c.3223-45G>A	NP_001073285.1:n.3223-45G>A