Canonical Allele Identifier: CA2587925815
Gene: INSR HGNC NCBI

Linked Data

gnomAD v4: 19-7172498-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7172498C>G , CM000681.2:g.7172498C>G GRCh38
NC_000019.9:g.7172509C>G , CM000681.1:g.7172509C>G GRCh37
NC_000019.8:g.7123509C>G NCBI36
NG_008852.2:g.126503G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.1124-64G>C MANE Select ENSP00000303830.4:n.1124-64G>C
ENST00000302850.9:c.1124-64G>C ENSP00000303830.4:n.1124-64G>C
ENST00000341500.9:c.1124-64G>C ENSP00000342838.4:n.1124-64G>C
ENST00000598216.1:n.1099-64G>C
NM_000208.2:c.1124-64G>C NP_000199.2:n.1124-64G>C
NM_000208.3:c.1124-64G>C NP_000199.2:n.1124-64G>C
NM_001079817.1:c.1124-64G>C NP_001073285.1:n.1124-64G>C
NM_001079817.2:c.1124-64G>C NP_001073285.1:n.1124-64G>C
XM_011527988.1:c.1202-64G>C XP_011526290.1:n.1202-64G>C
XM_011527989.1:c.1202-64G>C XP_011526291.1:n.1202-64G>C
XM_011527988.2:c.1124-64G>C XP_011526290.2:n.1124-64G>C
XM_011527989.3:c.1124-64G>C XP_011526291.2:n.1124-64G>C
NM_000208.4:c.1124-64G>C MANE Select NP_000199.2:n.1124-64G>C
NM_001079817.3:c.1124-64G>C NP_001073285.1:n.1124-64G>C