Canonical Allele Identifier: CA2587922099

Gene: INSR

Linked Data

• gnomAD v4: 19-7125497-TCGTCCGGCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7125501_7125509del , CM000681.2:g.7125501_7125509del	GRCh38
NC_000019.9:g.7125512_7125520del , CM000681.1:g.7125512_7125520del	GRCh37
NC_000019.8:g.7076512_7076520del	NCBI36
NG_008852.2:g.173495_173503del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3035_3043del MANE Select	ENSP00000303830.4:p.Val1012_Asp1014del
ENST00000302850.9:c.3035_3043del	ENSP00000303830.4:p.Val1012_Asp1014del
ENST00000341500.9:c.2999_3007del	ENSP00000342838.4:p.Val1000_Asp1002del
NM_000208.2:c.3035_3043del	NP_000199.2:p.Val1012_Asp1014del
NM_000208.3:c.3035_3043del	NP_000199.2:p.Val1012_Asp1014del
NM_001079817.1:c.2999_3007del	NP_001073285.1:p.Val1000_Asp1002del
NM_001079817.2:c.2999_3007del	NP_001073285.1:p.Val1000_Asp1002del
XM_011527988.1:c.3110_3118del	XP_011526290.1:p.Val1037_Asp1039del
XM_011527989.1:c.3074_3082del	XP_011526291.1:p.Val1025_Asp1027del
XM_011527988.2:c.3032_3040del	XP_011526290.2:p.Val1011_Asp1013del
XM_011527989.3:c.2996_3004del	XP_011526291.2:p.Val999_Asp1001del
NM_000208.4:c.3035_3043del MANE Select	NP_000199.2:p.Val1012_Asp1014del
NM_001079817.3:c.2999_3007del	NP_001073285.1:p.Val1000_Asp1002del