Canonical Allele Identifier: CA993136041

Gene: INSR

Linked Data

• dbSNP Id: rs1973396568
• gnomAD v3: 19-7152478-GA-G
• gnomAD v4: 19-7152478-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7152481del , CM000681.2:g.7152481del	GRCh38
NC_000019.9:g.7152492del , CM000681.1:g.7152492del	GRCh37
NC_000019.8:g.7103492del	NCBI36
NG_008852.2:g.146522del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.2231+247del MANE Select	ENSP00000303830.4:n.2231+247del
ENST00000302850.9:c.2231+247del	ENSP00000303830.4:n.2231+247del
ENST00000341500.9:c.2231+247del	ENSP00000342838.4:n.2231+247del
ENST00000598216.1:n.2453del
NM_000208.2:c.2231+247del	NP_000199.2:n.2231+247del
NM_000208.3:c.2231+247del	NP_000199.2:n.2231+247del
NM_001079817.1:c.2231+247del	NP_001073285.1:n.2231+247del
NM_001079817.2:c.2231+247del	NP_001073285.1:n.2231+247del
XM_011527988.1:c.2309+247del	XP_011526290.1:n.2309+247del
XM_011527989.1:c.2309+247del	XP_011526291.1:n.2309+247del
XM_011527988.2:c.2231+247del	XP_011526290.2:n.2231+247del
XM_011527989.3:c.2231+247del	XP_011526291.2:n.2231+247del
NM_000208.4:c.2231+247del MANE Select	NP_000199.2:n.2231+247del
NM_001079817.3:c.2231+247del	NP_001073285.1:n.2231+247del