Canonical Allele Identifier: CA993124545

Gene: INSR

Linked Data

• dbSNP Id: rs1974354969
• gnomAD v3: 19-7184227-GCA-G
• gnomAD v4: 19-7184227-GCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7184232_7184233del , CM000681.2:g.7184232_7184233del	GRCh38
NC_000019.9:g.7184243_7184244del , CM000681.1:g.7184243_7184244del	GRCh37
NC_000019.8:g.7135243_7135244del	NCBI36
NG_008852.2:g.114772_114773del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.974+87_974+88del MANE Select	ENSP00000303830.4:n.974+87_974+88del
ENST00000302850.9:c.974+87_974+88del	ENSP00000303830.4:n.974+87_974+88del
ENST00000341500.9:c.974+87_974+88del	ENSP00000342838.4:n.974+87_974+88del
ENST00000598216.1:n.949+87_949+88del
NM_000208.2:c.974+87_974+88del	NP_000199.2:n.974+87_974+88del
NM_000208.3:c.974+87_974+88del	NP_000199.2:n.974+87_974+88del
NM_001079817.1:c.974+87_974+88del	NP_001073285.1:n.974+87_974+88del
NM_001079817.2:c.974+87_974+88del	NP_001073285.1:n.974+87_974+88del
XM_011527988.1:c.1052+87_1052+88del	XP_011526290.1:n.1052+87_1052+88del
XM_011527989.1:c.1052+87_1052+88del	XP_011526291.1:n.1052+87_1052+88del
XM_011527988.2:c.974+87_974+88del	XP_011526290.2:n.974+87_974+88del
XM_011527989.3:c.974+87_974+88del	XP_011526291.2:n.974+87_974+88del
NM_000208.4:c.974+87_974+88del MANE Select	NP_000199.2:n.974+87_974+88del
NM_001079817.3:c.974+87_974+88del	NP_001073285.1:n.974+87_974+88del