Canonical Allele Identifier: CA631723700

Gene: INSR

Linked Data

• dbSNP Id: rs1325815185
• gnomAD v2: 19-7152523-CTT-C
• gnomAD v3: 19-7152512-CTT-C
• gnomAD v4: 19-7152512-CTT-C
• MyVariant Identifiers: chr19:g.7152524_7152525del (hg19) ; chr19:g.7152513_7152514del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7152515_7152516del , CM000681.2:g.7152515_7152516del	GRCh38
NC_000019.9:g.7152526_7152527del , CM000681.1:g.7152526_7152527del	GRCh37
NC_000019.8:g.7103526_7103527del	NCBI36
NG_008852.2:g.146487_146488del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.2231+212_2231+213del MANE Select	ENSP00000303830.4:n.2231+212_2231+213del
ENST00000302850.9:c.2231+212_2231+213del	ENSP00000303830.4:n.2231+212_2231+213del
ENST00000341500.9:c.2231+212_2231+213del	ENSP00000342838.4:n.2231+212_2231+213del
ENST00000598216.1:n.2418_2419del
NM_000208.2:c.2231+212_2231+213del	NP_000199.2:n.2231+212_2231+213del
NM_000208.3:c.2231+212_2231+213del	NP_000199.2:n.2231+212_2231+213del
NM_001079817.1:c.2231+212_2231+213del	NP_001073285.1:n.2231+212_2231+213del
NM_001079817.2:c.2231+212_2231+213del	NP_001073285.1:n.2231+212_2231+213del
XM_011527988.1:c.2309+212_2309+213del	XP_011526290.1:n.2309+212_2309+213del
XM_011527989.1:c.2309+212_2309+213del	XP_011526291.1:n.2309+212_2309+213del
XM_011527988.2:c.2231+212_2231+213del	XP_011526290.2:n.2231+212_2231+213del
XM_011527989.3:c.2231+212_2231+213del	XP_011526291.2:n.2231+212_2231+213del
NM_000208.4:c.2231+212_2231+213del MANE Select	NP_000199.2:n.2231+212_2231+213del
NM_001079817.3:c.2231+212_2231+213del	NP_001073285.1:n.2231+212_2231+213del