Canonical Allele Identifier: CA9135610

Gene: INSR

Linked Data

• dbSNP Id: rs772164518
• ExAC: 19:7150466 C / G
• gnomAD v2: 19-7150466-C-G
• gnomAD v4: 19-7150455-C-G
• MyVariant Identifiers: chr19:g.7150466C>G (hg19) ; chr19:g.7150455C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7150455C>G , CM000681.2:g.7150455C>G	GRCh38
NC_000019.9:g.7150466C>G , CM000681.1:g.7150466C>G	GRCh37
NC_000019.8:g.7101466C>G	NCBI36
NG_008852.2:g.148546G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.2267+42G>C MANE Select	ENSP00000303830.4:n.2267+42G>C
ENST00000302850.9:c.2267+42G>C	ENSP00000303830.4:n.2267+42G>C
ENST00000341500.9:c.2231+2271G>C	ENSP00000342838.4:n.2231+2271G>C
NM_000208.2:c.2267+42G>C	NP_000199.2:n.2267+42G>C
NM_000208.3:c.2267+42G>C	NP_000199.2:n.2267+42G>C
NM_001079817.1:c.2231+2271G>C	NP_001073285.1:n.2231+2271G>C
NM_001079817.2:c.2231+2271G>C	NP_001073285.1:n.2231+2271G>C
XM_011527988.1:c.2345+42G>C	XP_011526290.1:n.2345+42G>C
XM_011527989.1:c.2309+2271G>C	XP_011526291.1:n.2309+2271G>C
XM_011527988.2:c.2267+42G>C	XP_011526290.2:n.2267+42G>C
XM_011527989.3:c.2231+2271G>C	XP_011526291.2:n.2231+2271G>C
NM_000208.4:c.2267+42G>C MANE Select	NP_000199.2:n.2267+42G>C
NM_001079817.3:c.2231+2271G>C	NP_001073285.1:n.2231+2271G>C