Canonical Allele Identifier: CA14633734
Gene: INSR HGNC NCBI
COSMIC:
COSN19710488 (not active)
MyVariant.info:
GRCh38 chr19:g.7150407C>G
GRCh37 chr19:g.7150418C>G
gnomAD v2:
19:7150418 C / G
gnomAD v3:
19:7150407 C / G
gnomAD v4:
chr19-7150407-C-G
Joint Max Group AF 0.82958926 (NFE)
Genomes Max Group AF 0.81769172 (NFE)
Exomes Max Group AF 0.83018909 (NFE)
ClinVar RCV:
RCV001642013
ClinVar Variation:
1246658
dbSNP:
2252673
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7150407C>G , CM000681.2:g.7150407C>G GRCh38
NC_000019.9:g.7150418C>G , CM000681.1:g.7150418C>G GRCh37
NC_000019.8:g.7101418C>G NCBI36
NG_008852.2:g.148594G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.2267+90G>C MANE Select ENSP00000303830.4:n.2267+90G>C
ENST00000302850.9:c.2267+90G>C ENSP00000303830.4:n.2267+90G>C
ENST00000341500.9:c.2231+2319G>C ENSP00000342838.4:n.2231+2319G>C
NM_000208.2:c.2267+90G>C NP_000199.2:n.2267+90G>C
NM_000208.3:c.2267+90G>C NP_000199.2:n.2267+90G>C
NM_001079817.1:c.2231+2319G>C NP_001073285.1:n.2231+2319G>C
NM_001079817.2:c.2231+2319G>C NP_001073285.1:n.2231+2319G>C
XM_011527988.1:c.2345+90G>C XP_011526290.1:n.2345+90G>C
XM_011527989.1:c.2309+2319G>C XP_011526291.1:n.2309+2319G>C
XM_011527988.2:c.2267+90G>C XP_011526290.2:n.2267+90G>C
XM_011527989.3:c.2231+2319G>C XP_011526291.2:n.2231+2319G>C
NM_000208.4:c.2267+90G>C MANE Select NP_000199.2:n.2267+90G>C
NM_001079817.3:c.2231+2319G>C NP_001073285.1:n.2231+2319G>C
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