Canonical Allele Identifier: CA403671212

Gene: INSR

Linked Data

• gnomAD v4: 19-7125398-C-A
• MyVariant Identifiers: chr19:g.7125409C>A (hg19) ; chr19:g.7125398C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7125398C>A , CM000681.2:g.7125398C>A	GRCh38
NC_000019.9:g.7125409C>A , CM000681.1:g.7125409C>A	GRCh37
NC_000019.8:g.7076409C>A	NCBI36
NG_008852.2:g.173603G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3143G>T MANE Select	ENSP00000303830.4:p.Gly1048Val
ENST00000302850.9:c.3143G>T	ENSP00000303830.4:p.Gly1048Val
ENST00000341500.9:c.3107G>T	ENSP00000342838.4:p.Gly1036Val
NM_000208.2:c.3143G>T	NP_000199.2:p.Gly1048Val
NM_000208.3:c.3143G>T	NP_000199.2:p.Gly1048Val
NM_001079817.1:c.3107G>T	NP_001073285.1:p.Gly1036Val
NM_001079817.2:c.3107G>T	NP_001073285.1:p.Gly1036Val
XM_011527988.1:c.3218G>T	XP_011526290.1:p.Gly1073Val
XM_011527989.1:c.3182G>T	XP_011526291.1:p.Gly1061Val
XM_011527988.2:c.3140G>T	XP_011526290.2:p.Gly1047Val
XM_011527989.3:c.3104G>T	XP_011526291.2:p.Gly1035Val
NM_000208.4:c.3143G>T MANE Select	NP_000199.2:p.Gly1048Val
NM_001079817.3:c.3107G>T	NP_001073285.1:p.Gly1036Val