Canonical Allele Identifier: CA993122518

Gene: INSR

Linked Data

• gnomAD v3: 19-7182889-A-C
• gnomAD v4: 19-7182889-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7182889A>C , CM000681.2:g.7182889A>C	GRCh38
NC_000019.9:g.7182900A>C , CM000681.1:g.7182900A>C	GRCh37
NC_000019.8:g.7133900A>C	NCBI36
NG_008852.2:g.116112T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.974+1427T>G MANE Select	ENSP00000303830.4:n.974+1427T>G
ENST00000302850.9:c.974+1427T>G	ENSP00000303830.4:n.974+1427T>G
ENST00000341500.9:c.974+1427T>G	ENSP00000342838.4:n.974+1427T>G
ENST00000598216.1:n.949+1427T>G
NM_000208.2:c.974+1427T>G	NP_000199.2:n.974+1427T>G
NM_000208.3:c.974+1427T>G	NP_000199.2:n.974+1427T>G
NM_001079817.1:c.974+1427T>G	NP_001073285.1:n.974+1427T>G
NM_001079817.2:c.974+1427T>G	NP_001073285.1:n.974+1427T>G
XM_011527988.1:c.1052+1427T>G	XP_011526290.1:n.1052+1427T>G
XM_011527989.1:c.1052+1427T>G	XP_011526291.1:n.1052+1427T>G
XM_011527988.2:c.974+1427T>G	XP_011526290.2:n.974+1427T>G
XM_011527989.3:c.974+1427T>G	XP_011526291.2:n.974+1427T>G
NM_000208.4:c.974+1427T>G MANE Select	NP_000199.2:n.974+1427T>G
NM_001079817.3:c.974+1427T>G	NP_001073285.1:n.974+1427T>G