Canonical Allele Identifier: CA631723630

Gene: INSR

Linked Data

• dbSNP Id: rs959904325
• gnomAD v2: 19-7123055-G-C
• gnomAD v3: 19-7123044-G-C
• gnomAD v4: 19-7123044-G-C
• MyVariant Identifiers: chr19:g.7123055G>C (hg19) ; chr19:g.7123044G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7123044G>C , CM000681.2:g.7123044G>C	GRCh38
NC_000019.9:g.7123055G>C , CM000681.1:g.7123055G>C	GRCh37
NC_000019.8:g.7074055G>C	NCBI36
NG_008852.2:g.175957C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.3259-55C>G MANE Select	ENSP00000303830.4:n.3259-55C>G
ENST00000302850.9:c.3259-55C>G	ENSP00000303830.4:n.3259-55C>G
ENST00000341500.9:c.3223-55C>G	ENSP00000342838.4:n.3223-55C>G
ENST00000593970.1:n.105-55C>G
ENST00000601099.1:n.115C>G
NM_000208.2:c.3259-55C>G	NP_000199.2:n.3259-55C>G
NM_000208.3:c.3259-55C>G	NP_000199.2:n.3259-55C>G
NM_001079817.1:c.3223-55C>G	NP_001073285.1:n.3223-55C>G
NM_001079817.2:c.3223-55C>G	NP_001073285.1:n.3223-55C>G
XM_011527988.1:c.3334-55C>G	XP_011526290.1:n.3334-55C>G
XM_011527989.1:c.3298-55C>G	XP_011526291.1:n.3298-55C>G
XM_011527988.2:c.3256-55C>G	XP_011526290.2:n.3256-55C>G
XM_011527989.3:c.3220-55C>G	XP_011526291.2:n.3220-55C>G
NM_000208.4:c.3259-55C>G MANE Select	NP_000199.2:n.3259-55C>G
NM_001079817.3:c.3223-55C>G	NP_001073285.1:n.3223-55C>G