Canonical Allele Identifier: CA403668544

Gene: INSR

Linked Data

• gnomAD v4: 19-7117222-G-C
• MyVariant Identifiers: chr19:g.7117233G>C (hg19) ; chr19:g.7117222G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117222G>C , CM000681.2:g.7117222G>C	GRCh38
NC_000019.9:g.7117233G>C , CM000681.1:g.7117233G>C	GRCh37
NC_000019.8:g.7068233G>C	NCBI36
NG_008852.2:g.181779C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3983C>G MANE Select	ENSP00000303830.4:p.Pro1328Arg
ENST00000302850.9:c.3983C>G	ENSP00000303830.4:p.Pro1328Arg
ENST00000341500.9:c.3947C>G	ENSP00000342838.4:p.Pro1316Arg
NM_000208.2:c.3983C>G	NP_000199.2:p.Pro1328Arg
NM_000208.3:c.3983C>G	NP_000199.2:p.Pro1328Arg
NM_001079817.1:c.3947C>G	NP_001073285.1:p.Pro1316Arg
NM_001079817.2:c.3947C>G	NP_001073285.1:p.Pro1316Arg
XM_011527988.1:c.4058C>G	XP_011526290.1:p.Pro1353Arg
XM_011527989.1:c.4022C>G	XP_011526291.1:p.Pro1341Arg
XM_011527988.2:c.3980C>G	XP_011526290.2:p.Pro1327Arg
XM_011527989.3:c.3944C>G	XP_011526291.2:p.Pro1315Arg
NM_000208.4:c.3983C>G MANE Select	NP_000199.2:p.Pro1328Arg
NM_001079817.3:c.3947C>G	NP_001073285.1:p.Pro1316Arg