Canonical Allele Identifier: CA993122761
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs903956652
gnomAD v3: 19-7182937-A-C
gnomAD v4: 19-7182937-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7182937A>C , CM000681.2:g.7182937A>C GRCh38
NC_000019.9:g.7182948A>C , CM000681.1:g.7182948A>C GRCh37
NC_000019.8:g.7133948A>C NCBI36
NG_008852.2:g.116064T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.974+1379T>G MANE Select ENSP00000303830.4:n.974+1379T>G
ENST00000302850.9:c.974+1379T>G ENSP00000303830.4:n.974+1379T>G
ENST00000341500.9:c.974+1379T>G ENSP00000342838.4:n.974+1379T>G
ENST00000598216.1:n.949+1379T>G
NM_000208.2:c.974+1379T>G NP_000199.2:n.974+1379T>G
NM_000208.3:c.974+1379T>G NP_000199.2:n.974+1379T>G
NM_001079817.1:c.974+1379T>G NP_001073285.1:n.974+1379T>G
NM_001079817.2:c.974+1379T>G NP_001073285.1:n.974+1379T>G
XM_011527988.1:c.1052+1379T>G XP_011526290.1:n.1052+1379T>G
XM_011527989.1:c.1052+1379T>G XP_011526291.1:n.1052+1379T>G
XM_011527988.2:c.974+1379T>G XP_011526290.2:n.974+1379T>G
XM_011527989.3:c.974+1379T>G XP_011526291.2:n.974+1379T>G
NM_000208.4:c.974+1379T>G MANE Select NP_000199.2:n.974+1379T>G
NM_001079817.3:c.974+1379T>G NP_001073285.1:n.974+1379T>G