Canonical Allele Identifier: CA403671446

Gene: INSR

Linked Data

• COSMIC: COSM2728459 ; COSM2728460
• MyVariant Identifiers: chr19:g.7125518C>A (hg19) ; chr19:g.7125507C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7125507C>A , CM000681.2:g.7125507C>A	GRCh38
NC_000019.9:g.7125518C>A , CM000681.1:g.7125518C>A	GRCh37
NC_000019.8:g.7076518C>A	NCBI36
NG_008852.2:g.173494G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3034G>T MANE Select	ENSP00000303830.4:p.Val1012Leu
ENST00000302850.9:c.3034G>T	ENSP00000303830.4:p.Val1012Leu
ENST00000341500.9:c.2998G>T	ENSP00000342838.4:p.Val1000Leu
NM_000208.2:c.3034G>T	NP_000199.2:p.Val1012Leu
NM_000208.3:c.3034G>T	NP_000199.2:p.Val1012Leu
NM_001079817.1:c.2998G>T	NP_001073285.1:p.Val1000Leu
NM_001079817.2:c.2998G>T	NP_001073285.1:p.Val1000Leu
XM_011527988.1:c.3109G>T	XP_011526290.1:p.Val1037Leu
XM_011527989.1:c.3073G>T	XP_011526291.1:p.Val1025Leu
XM_011527988.2:c.3031G>T	XP_011526290.2:p.Val1011Leu
XM_011527989.3:c.2995G>T	XP_011526291.2:p.Val999Leu
NM_000208.4:c.3034G>T MANE Select	NP_000199.2:p.Val1012Leu
NM_001079817.3:c.2998G>T	NP_001073285.1:p.Val1000Leu