Canonical Allele Identifier: CA631723531

Gene: INSR

Linked Data

• dbSNP Id: rs1269256199
• gnomAD v2: 19-7117246-TGTCC-T
• gnomAD v3: 19-7117235-TGTCC-T
• gnomAD v4: 19-7117235-TGTCC-T
• MyVariant Identifiers: chr19:g.7117247_7117250del (hg19) ; chr19:g.7117236_7117239del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117236_7117239del , CM000681.2:g.7117236_7117239del	GRCh38
NC_000019.9:g.7117247_7117250del , CM000681.1:g.7117247_7117250del	GRCh37
NC_000019.8:g.7068247_7068250del	NCBI36
NG_008852.2:g.181762_181765del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3966_3969del MANE Select	ENSP00000303830.4:p.Asp1323TrpfsTer?
ENST00000302850.9:c.3966_3969del	ENSP00000303830.4:p.Asp1323TrpfsTer?
ENST00000341500.9:c.3930_3933del	ENSP00000342838.4:p.Asp1311TrpfsTer?
NM_000208.2:c.3966_3969del	NP_000199.2:p.Asp1323TrpfsTer?
NM_000208.3:c.3966_3969del	NP_000199.2:p.Asp1323TrpfsTer?
NM_001079817.1:c.3930_3933del	NP_001073285.1:p.Asp1311TrpfsTer?
NM_001079817.2:c.3930_3933del	NP_001073285.1:p.Asp1311TrpfsTer?
XM_011527988.1:c.4041_4044del	XP_011526290.1:p.Asp1348TrpfsTer?
XM_011527989.1:c.4005_4008del	XP_011526291.1:p.Asp1336TrpfsTer?
XM_011527988.2:c.3963_3966del	XP_011526290.2:p.Asp1322TrpfsTer?
XM_011527989.3:c.3927_3930del	XP_011526291.2:p.Asp1310TrpfsTer?
NM_000208.4:c.3966_3969del MANE Select	NP_000199.2:p.Asp1323TrpfsTer?
NM_001079817.3:c.3930_3933del	NP_001073285.1:p.Asp1311TrpfsTer?