Canonical Allele Identifier: CA2587923190

Gene: INSR

Linked Data

• gnomAD v4: 19-7150370-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7150370C>T , CM000681.2:g.7150370C>T	GRCh38
NC_000019.9:g.7150381C>T , CM000681.1:g.7150381C>T	GRCh37
NC_000019.8:g.7101381C>T	NCBI36
NG_008852.2:g.148631G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.2267+127G>A MANE Select	ENSP00000303830.4:n.2267+127G>A
ENST00000302850.9:c.2267+127G>A	ENSP00000303830.4:n.2267+127G>A
ENST00000341500.9:c.2231+2356G>A	ENSP00000342838.4:n.2231+2356G>A
NM_000208.2:c.2267+127G>A	NP_000199.2:n.2267+127G>A
NM_000208.3:c.2267+127G>A	NP_000199.2:n.2267+127G>A
NM_001079817.1:c.2231+2356G>A	NP_001073285.1:n.2231+2356G>A
NM_001079817.2:c.2231+2356G>A	NP_001073285.1:n.2231+2356G>A
XM_011527988.1:c.2345+127G>A	XP_011526290.1:n.2345+127G>A
XM_011527989.1:c.2309+2356G>A	XP_011526291.1:n.2309+2356G>A
XM_011527988.2:c.2267+127G>A	XP_011526290.2:n.2267+127G>A
XM_011527989.3:c.2231+2356G>A	XP_011526291.2:n.2231+2356G>A
NM_000208.4:c.2267+127G>A MANE Select	NP_000199.2:n.2267+127G>A
NM_001079817.3:c.2231+2356G>A	NP_001073285.1:n.2231+2356G>A