Canonical Allele Identifier: CA9135854

Gene: INSR

Linked Data

• dbSNP Id: rs764762243
• ExAC: 19:7170773 AAC / A
• gnomAD v2: 19-7170773-AAC-A
• gnomAD v4: 19-7170762-AAC-A
• MyVariant Identifiers: chr19:g.7170774_7170775del (hg19) ; chr19:g.7170763_7170764del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7170770_7170771del , CM000681.2:g.7170770_7170771del	GRCh38
NC_000019.9:g.7170781_7170782del , CM000681.1:g.7170781_7170782del	GRCh37
NC_000019.8:g.7121781_7121782del	NCBI36
NG_008852.2:g.128237_128238del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.1269-13_1269-12del MANE Select	ENSP00000303830.4:n.1269-13_1269-12del
ENST00000302850.9:c.1269-13_1269-12del	ENSP00000303830.4:n.1269-13_1269-12del
ENST00000341500.9:c.1269-13_1269-12del	ENSP00000342838.4:n.1269-13_1269-12del
ENST00000598216.1:n.1244-13_1244-12del
NM_000208.2:c.1269-13_1269-12del	NP_000199.2:n.1269-13_1269-12del
NM_000208.3:c.1269-13_1269-12del	NP_000199.2:n.1269-13_1269-12del
NM_001079817.1:c.1269-13_1269-12del	NP_001073285.1:n.1269-13_1269-12del
NM_001079817.2:c.1269-13_1269-12del	NP_001073285.1:n.1269-13_1269-12del
XM_011527988.1:c.1347-13_1347-12del	XP_011526290.1:n.1347-13_1347-12del
XM_011527989.1:c.1347-13_1347-12del	XP_011526291.1:n.1347-13_1347-12del
XM_011527988.2:c.1269-13_1269-12del	XP_011526290.2:n.1269-13_1269-12del
XM_011527989.3:c.1269-13_1269-12del	XP_011526291.2:n.1269-13_1269-12del
NM_000208.4:c.1269-13_1269-12del MANE Select	NP_000199.2:n.1269-13_1269-12del
NM_001079817.3:c.1269-13_1269-12del	NP_001073285.1:n.1269-13_1269-12del