Canonical Allele Identifier: CA2320763821

Gene: INSR

Linked Data

• dbSNP Id: rs1051690
• gnomAD v4: 19-7116952-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7116952T>G , CM000681.2:g.7116952T>G	GRCh38
NC_000019.9:g.7116963T>G , CM000681.1:g.7116963T>G	GRCh37
NC_000019.8:g.7067963T>G	NCBI36
NG_008852.2:g.182049A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.*104A>C MANE Select	ENSP00000303830.4:n.*104A>C
ENST00000302850.9:c.*104A>C	ENSP00000303830.4:n.*104A>C
ENST00000341500.9:c.*104A>C	ENSP00000342838.4:n.*104A>C
NM_000208.2:c.*104A>C	NP_000199.2:n.*104A>C
NM_000208.3:c.*104A>C	NP_000199.2:n.*104A>C
NM_001079817.1:c.*104A>C	NP_001073285.1:n.*104A>C
NM_001079817.2:c.*104A>C	NP_001073285.1:n.*104A>C
XM_011527988.1:c.*104A>C	XP_011526290.1:n.*104A>C
XM_011527989.1:c.*104A>C	XP_011526291.1:n.*104A>C
XM_011527988.2:c.*104A>C	XP_011526290.2:n.*104A>C
XM_011527989.3:c.*104A>C	XP_011526291.2:n.*104A>C
NM_000208.4:c.*104A>C MANE Select	NP_000199.2:n.*104A>C
NM_001079817.3:c.*104A>C	NP_001073285.1:n.*104A>C