Canonical Allele Identifier: CA403670013

Gene: INSR

Linked Data

• gnomAD v4: 19-7184484-G-T
• MyVariant Identifiers: chr19:g.7184495G>T (hg19) ; chr19:g.7184484G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7184484G>T , CM000681.2:g.7184484G>T	GRCh38
NC_000019.9:g.7184495G>T , CM000681.1:g.7184495G>T	GRCh37
NC_000019.8:g.7135495G>T	NCBI36
NG_008852.2:g.114517C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.806C>A MANE Select	ENSP00000303830.4:p.Pro269Gln
ENST00000302850.9:c.806C>A	ENSP00000303830.4:p.Pro269Gln
ENST00000341500.9:c.806C>A	ENSP00000342838.4:p.Pro269Gln
ENST00000598216.1:n.781C>A
NM_000208.2:c.806C>A	NP_000199.2:p.Pro269Gln
NM_000208.3:c.806C>A	NP_000199.2:p.Pro269Gln
NM_001079817.1:c.806C>A	NP_001073285.1:p.Pro269Gln
NM_001079817.2:c.806C>A	NP_001073285.1:p.Pro269Gln
XM_011527988.1:c.884C>A	XP_011526290.1:p.Pro295Gln
XM_011527989.1:c.884C>A	XP_011526291.1:p.Pro295Gln
XM_011527988.2:c.806C>A	XP_011526290.2:p.Pro269Gln
XM_011527989.3:c.806C>A	XP_011526291.2:p.Pro269Gln
NM_000208.4:c.806C>A MANE Select	NP_000199.2:p.Pro269Gln
NM_001079817.3:c.806C>A	NP_001073285.1:p.Pro269Gln