Canonical Allele Identifier: CA947556256

Gene: FAM186A

Linked Data

• dbSNP Id: rs1943023922
• gnomAD v3: 12-50360683-A-AG
• gnomAD v4: 12-50360683-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.50360683_50360684insG , CM000674.2:g.50360683_50360684insG	GRCh38
NC_000012.11:g.50754466_50754467insG , CM000674.1:g.50754466_50754467insG	GRCh37
NC_000012.10:g.49040733_49040734insG	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000327337.6:c.583+72_583+73insC MANE Select	ENSP00000329995.5:n.583+72_583+73insC
ENST00000327337.5:c.583+72_583+73insC	ENSP00000329995.5:n.583+72_583+73insC
ENST00000543111.5:c.583+72_583+73insC	ENSP00000441337.1:n.583+72_583+73insC
NM_001145475.1:c.583+72_583+73insC	NP_001138947.1:n.583+72_583+73insC
XM_006719231.2:c.583+72_583+73insC	XP_006719294.1:n.583+72_583+73insC
XM_011537890.1:c.583+72_583+73insC	XP_011536192.1:n.583+72_583+73insC
XM_011537891.1:c.412+2461_412+2462insC	XP_011536193.1:n.412+2461_412+2462insC
XM_011537892.1:c.154+72_154+73insC	XP_011536194.1:n.154+72_154+73insC
NM_001145475.2:c.583+72_583+73insC	NP_001138947.1:n.583+72_583+73insC
XM_006719231.3:c.583+72_583+73insC	XP_006719294.1:n.583+72_583+73insC
XM_011537890.2:c.583+72_583+73insC	XP_011536192.1:n.583+72_583+73insC
NM_001145475.3:c.583+72_583+73insC MANE Select	NP_001138947.1:n.583+72_583+73insC