Canonical Allele Identifier: CA10053488

Gene: CFAP410

Linked Data

• dbSNP Id: rs767848858
• ExAC: 21:45750178 CGCA / C
• gnomAD v2: 21-45750178-CGCA-C
• gnomAD v4: 21-44330295-CGCA-C
• MyVariant Identifiers: chr21:g.45750179_45750181del (hg19) ; chr21:g.44330296_44330298del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44330306_44330308del , CM000683.2:g.44330306_44330308del	GRCh38
NC_000021.8:g.45750189_45750191del , CM000683.1:g.45750189_45750191del	GRCh37
NC_000021.7:g.44574617_44574619del	NCBI36
NG_032952.1:g.14105_14107del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.671_673del MANE Select	ENSP00000344566.4:p.Leu224del
ENST00000325223.7:c.668_670del	ENSP00000317302.7:p.Leu223del
ENST00000339818.8:c.671_673del	ENSP00000344566.4:p.Leu224del
ENST00000397956.7:c.1028_1030del	ENSP00000381047.3:p.Leu343del
ENST00000462742.1:n.4125_4127del
ENST00000470196.5:n.247_249del
ENST00000496321.5:n.784_786del
NM_001271440.1:c.668_670del	NP_001258369.1:p.Leu223del
NM_001271441.1:c.1028_1030del	NP_001258370.1:p.Leu343del
NM_001271442.1:c.545_547del	NP_001258371.1:p.Leu182del
NM_004928.2:c.671_673del	NP_004919.1:p.Leu224del
XM_006724051.2:c.746_748del	XP_006724114.1:p.Leu249del
XM_006724052.2:c.743_745del	XP_006724115.1:p.Leu248del
XM_006724053.2:c.347_349del	XP_006724116.1:p.Leu116del
XR_937571.1:n.1231_1233del
XM_006724051.3:c.746_748del	XP_006724114.1:p.Leu249del
XM_006724053.3:c.347_349del	XP_006724116.1:p.Leu116del
XM_017028470.1:c.872_874del	XP_016883959.1:p.Leu291del
XM_017028471.1:c.620_622del	XP_016883960.1:p.Leu207del
XM_017028472.1:c.344_346del	XP_016883961.1:p.Leu115del
XR_937571.2:n.1238_1240del
NM_004928.3:c.671_673del MANE Select	NP_004919.1:p.Leu224del
NM_001271440.2:c.668_670del	NP_001258369.1:p.Leu223del
NM_001271441.2:c.1028_1030del	NP_001258370.1:p.Leu343del