Canonical Allele Identifier: CA403668543

Gene: INSR

Linked Data

• dbSNP Id: rs1972356974
• gnomAD v4: 19-7117222-G-A
• MyVariant Identifiers: chr19:g.7117233G>A (hg19) ; chr19:g.7117222G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3983C>T MANE Select	ENSP00000303830.4:p.Pro1328Leu
ENST00000302850.9:c.3983C>T	ENSP00000303830.4:p.Pro1328Leu
ENST00000341500.9:c.3947C>T	ENSP00000342838.4:p.Pro1316Leu
NM_000208.2:c.3983C>T	NP_000199.2:p.Pro1328Leu
NM_000208.3:c.3983C>T	NP_000199.2:p.Pro1328Leu
NM_001079817.1:c.3947C>T	NP_001073285.1:p.Pro1316Leu
NM_001079817.2:c.3947C>T	NP_001073285.1:p.Pro1316Leu
XM_011527988.1:c.4058C>T	XP_011526290.1:p.Pro1353Leu
XM_011527989.1:c.4022C>T	XP_011526291.1:p.Pro1341Leu
XM_011527988.2:c.3980C>T	XP_011526290.2:p.Pro1327Leu
XM_011527989.3:c.3944C>T	XP_011526291.2:p.Pro1315Leu
NM_000208.4:c.3983C>T MANE Select	NP_000199.2:p.Pro1328Leu
NM_001079817.3:c.3947C>T	NP_001073285.1:p.Pro1316Leu