Canonical Allele Identifier: CA403671219

Gene: INSR

Linked Data

• gnomAD v4: 19-7125401-T-G
• MyVariant Identifiers: chr19:g.7125412T>G (hg19) ; chr19:g.7125401T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7125401T>G , CM000681.2:g.7125401T>G	GRCh38
NC_000019.9:g.7125412T>G , CM000681.1:g.7125412T>G	GRCh37
NC_000019.8:g.7076412T>G	NCBI36
NG_008852.2:g.173600A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3140A>C MANE Select	ENSP00000303830.4:p.Lys1047Thr
ENST00000302850.9:c.3140A>C	ENSP00000303830.4:p.Lys1047Thr
ENST00000341500.9:c.3104A>C	ENSP00000342838.4:p.Lys1035Thr
NM_000208.2:c.3140A>C	NP_000199.2:p.Lys1047Thr
NM_000208.3:c.3140A>C	NP_000199.2:p.Lys1047Thr
NM_001079817.1:c.3104A>C	NP_001073285.1:p.Lys1035Thr
NM_001079817.2:c.3104A>C	NP_001073285.1:p.Lys1035Thr
XM_011527988.1:c.3215A>C	XP_011526290.1:p.Lys1072Thr
XM_011527989.1:c.3179A>C	XP_011526291.1:p.Lys1060Thr
XM_011527988.2:c.3137A>C	XP_011526290.2:p.Lys1046Thr
XM_011527989.3:c.3101A>C	XP_011526291.2:p.Lys1034Thr
NM_000208.4:c.3140A>C MANE Select	NP_000199.2:p.Lys1047Thr
NM_001079817.3:c.3104A>C	NP_001073285.1:p.Lys1035Thr