Canonical Allele Identifier: CA884186401
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs1307170930
gnomAD v3: 19-7150272-T-G
gnomAD v4: 19-7150272-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7150272T>G , CM000681.2:g.7150272T>G GRCh38
NC_000019.9:g.7150283T>G , CM000681.1:g.7150283T>G GRCh37
NC_000019.8:g.7101283T>G NCBI36
NG_008852.2:g.148729A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.2267+225A>C MANE Select ENSP00000303830.4:n.2267+225A>C
ENST00000302850.9:c.2267+225A>C ENSP00000303830.4:n.2267+225A>C
ENST00000341500.9:c.2231+2454A>C ENSP00000342838.4:n.2231+2454A>C
NM_000208.2:c.2267+225A>C NP_000199.2:n.2267+225A>C
NM_000208.3:c.2267+225A>C NP_000199.2:n.2267+225A>C
NM_001079817.1:c.2231+2454A>C NP_001073285.1:n.2231+2454A>C
NM_001079817.2:c.2231+2454A>C NP_001073285.1:n.2231+2454A>C
XM_011527988.1:c.2345+225A>C XP_011526290.1:n.2345+225A>C
XM_011527989.1:c.2309+2454A>C XP_011526291.1:n.2309+2454A>C
XM_011527988.2:c.2267+225A>C XP_011526290.2:n.2267+225A>C
XM_011527989.3:c.2231+2454A>C XP_011526291.2:n.2231+2454A>C
NM_000208.4:c.2267+225A>C MANE Select NP_000199.2:n.2267+225A>C
NM_001079817.3:c.2231+2454A>C NP_001073285.1:n.2231+2454A>C