Canonical Allele Identifier: CA2587922094
Gene: INSR HGNC NCBI

Linked Data

gnomAD v4: 19-7125280-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7125280C>G , CM000681.2:g.7125280C>G GRCh38
NC_000019.9:g.7125291C>G , CM000681.1:g.7125291C>G GRCh37
NC_000019.8:g.7076291C>G NCBI36
NG_008852.2:g.173721G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.3258+3G>C MANE Select ENSP00000303830.4:n.3258+3G>C
ENST00000302850.9:c.3258+3G>C ENSP00000303830.4:n.3258+3G>C
ENST00000341500.9:c.3222+3G>C ENSP00000342838.4:n.3222+3G>C
ENST00000593970.1:n.104+3G>C
NM_000208.2:c.3258+3G>C NP_000199.2:n.3258+3G>C
NM_000208.3:c.3258+3G>C NP_000199.2:n.3258+3G>C
NM_001079817.1:c.3222+3G>C NP_001073285.1:n.3222+3G>C
NM_001079817.2:c.3222+3G>C NP_001073285.1:n.3222+3G>C
XM_011527988.1:c.3333+3G>C XP_011526290.1:n.3333+3G>C
XM_011527989.1:c.3297+3G>C XP_011526291.1:n.3297+3G>C
XM_011527988.2:c.3255+3G>C XP_011526290.2:n.3255+3G>C
XM_011527989.3:c.3219+3G>C XP_011526291.2:n.3219+3G>C
NM_000208.4:c.3258+3G>C MANE Select NP_000199.2:n.3258+3G>C
NM_001079817.3:c.3222+3G>C NP_001073285.1:n.3222+3G>C