Canonical Allele Identifier: CA2555625860

Gene: INSR

Linked Data

• gnomAD v4: 19-7125269-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7125269C>A , CM000681.2:g.7125269C>A	GRCh38
NC_000019.9:g.7125280C>A , CM000681.1:g.7125280C>A	GRCh37
NC_000019.8:g.7076280C>A	NCBI36
NG_008852.2:g.173732G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3258+14G>T MANE Select	ENSP00000303830.4:n.3258+14G>T
ENST00000302850.9:c.3258+14G>T	ENSP00000303830.4:n.3258+14G>T
ENST00000341500.9:c.3222+14G>T	ENSP00000342838.4:n.3222+14G>T
ENST00000593970.1:n.104+14G>T
NM_000208.2:c.3258+14G>T	NP_000199.2:n.3258+14G>T
NM_000208.3:c.3258+14G>T	NP_000199.2:n.3258+14G>T
NM_001079817.1:c.3222+14G>T	NP_001073285.1:n.3222+14G>T
NM_001079817.2:c.3222+14G>T	NP_001073285.1:n.3222+14G>T
XM_011527988.1:c.3333+14G>T	XP_011526290.1:n.3333+14G>T
XM_011527989.1:c.3297+14G>T	XP_011526291.1:n.3297+14G>T
XM_011527988.2:c.3255+14G>T	XP_011526290.2:n.3255+14G>T
XM_011527989.3:c.3219+14G>T	XP_011526291.2:n.3219+14G>T
NM_000208.4:c.3258+14G>T MANE Select	NP_000199.2:n.3258+14G>T
NM_001079817.3:c.3222+14G>T	NP_001073285.1:n.3222+14G>T