Canonical Allele Identifier: CA2576595286

Gene: INSR

Linked Data

• gnomAD v4: 19-7166458-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7166458G>T , CM000681.2:g.7166458G>T	GRCh38
NC_000019.9:g.7166469G>T , CM000681.1:g.7166469G>T	GRCh37
NC_000019.8:g.7117469G>T	NCBI36
NG_008852.2:g.132543C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.1611-54C>A MANE Select	ENSP00000303830.4:n.1611-54C>A
ENST00000302850.9:c.1611-54C>A	ENSP00000303830.4:n.1611-54C>A
ENST00000341500.9:c.1611-54C>A	ENSP00000342838.4:n.1611-54C>A
ENST00000598216.1:n.1586-54C>A
ENST00000600492.1:c.12-54C>A	ENSP00000473170.1:n.12-54C>A
NM_000208.2:c.1611-54C>A	NP_000199.2:n.1611-54C>A
NM_000208.3:c.1611-54C>A	NP_000199.2:n.1611-54C>A
NM_001079817.1:c.1611-54C>A	NP_001073285.1:n.1611-54C>A
NM_001079817.2:c.1611-54C>A	NP_001073285.1:n.1611-54C>A
XM_011527988.1:c.1689-54C>A	XP_011526290.1:n.1689-54C>A
XM_011527989.1:c.1689-54C>A	XP_011526291.1:n.1689-54C>A
XM_011527988.2:c.1611-54C>A	XP_011526290.2:n.1611-54C>A
XM_011527989.3:c.1611-54C>A	XP_011526291.2:n.1611-54C>A
NM_000208.4:c.1611-54C>A MANE Select	NP_000199.2:n.1611-54C>A
NM_001079817.3:c.1611-54C>A	NP_001073285.1:n.1611-54C>A