Canonical Allele Identifier: CA403671121

Gene: INSR

Linked Data

• dbSNP Id: rs2144814015
• gnomAD v4: 19-7125356-G-A
• MyVariant Identifiers: chr19:g.7125367G>A (hg19) ; chr19:g.7125356G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7125356G>A , CM000681.2:g.7125356G>A	GRCh38
NC_000019.9:g.7125367G>A , CM000681.1:g.7125367G>A	GRCh37
NC_000019.8:g.7076367G>A	NCBI36
NG_008852.2:g.173645C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3185C>T MANE Select	ENSP00000303830.4:p.Ser1062Leu
ENST00000302850.9:c.3185C>T	ENSP00000303830.4:p.Ser1062Leu
ENST00000341500.9:c.3149C>T	ENSP00000342838.4:p.Ser1050Leu
ENST00000593970.1:n.31C>T
NM_000208.2:c.3185C>T	NP_000199.2:p.Ser1062Leu
NM_000208.3:c.3185C>T	NP_000199.2:p.Ser1062Leu
NM_001079817.1:c.3149C>T	NP_001073285.1:p.Ser1050Leu
NM_001079817.2:c.3149C>T	NP_001073285.1:p.Ser1050Leu
XM_011527988.1:c.3260C>T	XP_011526290.1:p.Ser1087Leu
XM_011527989.1:c.3224C>T	XP_011526291.1:p.Ser1075Leu
XM_011527988.2:c.3182C>T	XP_011526290.2:p.Ser1061Leu
XM_011527989.3:c.3146C>T	XP_011526291.2:p.Ser1049Leu
NM_000208.4:c.3185C>T MANE Select	NP_000199.2:p.Ser1062Leu
NM_001079817.3:c.3149C>T	NP_001073285.1:p.Ser1050Leu