Canonical Allele Identifier: CA2587924125

Gene: INSR

Linked Data

• gnomAD v4: 19-7152483-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7152483G>A , CM000681.2:g.7152483G>A	GRCh38
NC_000019.9:g.7152494G>A , CM000681.1:g.7152494G>A	GRCh37
NC_000019.8:g.7103494G>A	NCBI36
NG_008852.2:g.146518C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.2231+243C>T MANE Select	ENSP00000303830.4:n.2231+243C>T
ENST00000302850.9:c.2231+243C>T	ENSP00000303830.4:n.2231+243C>T
ENST00000341500.9:c.2231+243C>T	ENSP00000342838.4:n.2231+243C>T
ENST00000598216.1:n.2449C>T
NM_000208.2:c.2231+243C>T	NP_000199.2:n.2231+243C>T
NM_000208.3:c.2231+243C>T	NP_000199.2:n.2231+243C>T
NM_001079817.1:c.2231+243C>T	NP_001073285.1:n.2231+243C>T
NM_001079817.2:c.2231+243C>T	NP_001073285.1:n.2231+243C>T
XM_011527988.1:c.2309+243C>T	XP_011526290.1:n.2309+243C>T
XM_011527989.1:c.2309+243C>T	XP_011526291.1:n.2309+243C>T
XM_011527988.2:c.2231+243C>T	XP_011526290.2:n.2231+243C>T
XM_011527989.3:c.2231+243C>T	XP_011526291.2:n.2231+243C>T
NM_000208.4:c.2231+243C>T MANE Select	NP_000199.2:n.2231+243C>T
NM_001079817.3:c.2231+243C>T	NP_001073285.1:n.2231+243C>T