Canonical Allele Identifier: CA2320790781
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs1974041176
gnomAD v4: 19-7172488-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7172488T>C , CM000681.2:g.7172488T>C GRCh38
NC_000019.9:g.7172499T>C , CM000681.1:g.7172499T>C GRCh37
NC_000019.8:g.7123499T>C NCBI36
NG_008852.2:g.126513A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.1124-54A>G MANE Select ENSP00000303830.4:n.1124-54A>G
ENST00000302850.9:c.1124-54A>G ENSP00000303830.4:n.1124-54A>G
ENST00000341500.9:c.1124-54A>G ENSP00000342838.4:n.1124-54A>G
ENST00000598216.1:n.1099-54A>G
NM_000208.2:c.1124-54A>G NP_000199.2:n.1124-54A>G
NM_000208.3:c.1124-54A>G NP_000199.2:n.1124-54A>G
NM_001079817.1:c.1124-54A>G NP_001073285.1:n.1124-54A>G
NM_001079817.2:c.1124-54A>G NP_001073285.1:n.1124-54A>G
XM_011527988.1:c.1202-54A>G XP_011526290.1:n.1202-54A>G
XM_011527989.1:c.1202-54A>G XP_011526291.1:n.1202-54A>G
XM_011527988.2:c.1124-54A>G XP_011526290.2:n.1124-54A>G
XM_011527989.3:c.1124-54A>G XP_011526291.2:n.1124-54A>G
NM_000208.4:c.1124-54A>G MANE Select NP_000199.2:n.1124-54A>G
NM_001079817.3:c.1124-54A>G NP_001073285.1:n.1124-54A>G