Canonical Allele Identifier: CA637855098

Gene: FAM3B

Linked Data

• dbSNP Id: rs1257099650
• gnomAD v2: 21-42698579-GGAAGTCCCTGGGGAGAGC-G
• gnomAD v3: 21-41326652-GGAAGTCCCTGGGGAGAGC-G
• gnomAD v4: 21-41326652-GGAAGTCCCTGGGGAGAGC-G
• MyVariant Identifiers: chr21:g.42698580_42698597del (hg19) ; chr21:g.41326653_41326670del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.41326653_41326670del , CM000683.2:g.41326653_41326670del	GRCh38
NC_000021.8:g.42698580_42698597del , CM000683.1:g.42698580_42698597del	GRCh37
NC_000021.7:g.41620450_41620467del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357985.7:c.163+3587_163+3604del MANE Select	ENSP00000350673.2:n.163+3587_163+3604del
ENST00000357985.6:c.163+3587_163+3604del	ENSP00000350673.2:n.163+3587_163+3604del
ENST00000398646.3:c.232+3587_232+3604del	ENSP00000381641.3:n.232+3587_232+3604del
ENST00000398647.7:c.19+9755_19+9772del	ENSP00000381642.3:n.19+9755_19+9772del
ENST00000398652.7:c.280+3587_280+3604del	ENSP00000381646.3:n.280+3587_280+3604del
ENST00000479810.6:n.1764+3587_1764+3604del
ENST00000518236.1:n.205+3587_205+3604del
NM_058186.3:c.163+3587_163+3604del	NP_478066.3:n.163+3587_163+3604del
NM_206964.1:c.19+9755_19+9772del	NP_996847.1:n.19+9755_19+9772del
XM_011529648.1:c.163+3587_163+3604del	XP_011527950.1:n.163+3587_163+3604del
XM_011529649.1:c.205+3587_205+3604del	XP_011527951.1:n.205+3587_205+3604del
XR_937526.1:n.662+3587_662+3604del
XM_011529648.2:c.391+3587_391+3604del	XP_011527950.2:n.391+3587_391+3604del
XM_011529649.2:c.205+3587_205+3604del	XP_011527951.1:n.205+3587_205+3604del
XR_937526.2:n.663+3587_663+3604del
NM_058186.4:c.163+3587_163+3604del MANE Select	NP_478066.3:n.163+3587_163+3604del
NM_206964.2:c.19+9755_19+9772del	NP_996847.1:n.19+9755_19+9772del