Canonical Allele Identifier: CA1933460056

Gene: CFAP43

Linked Data

• dbSNP Id: rs2088911097
• gnomAD v4: 10-104162188-GGAGGCCAACT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104162192_104162201del , CM000672.2:g.104162192_104162201del	GRCh38
NC_000010.10:g.105921950_105921959del , CM000672.1:g.105921950_105921959del	GRCh37
NC_000010.9:g.105911940_105911949del	NCBI36
NG_051581.1:g.75180_75189del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357060.8:c.3333+119_3333+128del MANE Select	ENSP00000349568.3:n.3333+119_3333+128del
ENST00000357060.7:c.3333+119_3333+128del	ENSP00000349568.3:n.3333+119_3333+128del
ENST00000434629.5:c.1415+119_1415+128del
NM_025145.5:c.3333+119_3333+128del	NP_079421.5:n.3333+119_3333+128del
XM_005270171.1:c.3336+119_3336+128del	XP_005270228.1:n.3336+119_3336+128del
XM_005270172.2:c.3336+119_3336+128del	XP_005270229.1:n.3336+119_3336+128del
XM_011540196.1:c.3450+119_3450+128del	XP_011538498.1:n.3450+119_3450+128del
XM_011540197.1:c.3450+119_3450+128del	XP_011538499.1:n.3450+119_3450+128del
XM_011540198.1:c.3333+119_3333+128del	XP_011538500.1:n.3333+119_3333+128del
XM_011540199.1:c.3333+119_3333+128del	XP_011538501.1:n.3333+119_3333+128del
XM_011540200.1:c.3450+119_3450+128del	XP_011538502.1:n.3450+119_3450+128del
XM_011540201.1:c.3450+119_3450+128del	XP_011538503.1:n.3450+119_3450+128del
XM_011540202.1:c.2679+119_2679+128del	XP_011538504.1:n.2679+119_2679+128del
XM_011540203.1:c.1233+119_1233+128del	XP_011538505.1:n.1233+119_1233+128del
NM_025145.6:c.3333+119_3333+128del	NP_079421.5:n.3333+119_3333+128del
XM_005270171.2:c.3336+119_3336+128del	XP_005270228.1:n.3336+119_3336+128del
XM_005270172.3:c.3336+119_3336+128del	XP_005270229.1:n.3336+119_3336+128del
XM_011540196.2:c.3450+119_3450+128del	XP_011538498.1:n.3450+119_3450+128del
XM_011540197.2:c.3450+119_3450+128del	XP_011538499.1:n.3450+119_3450+128del
XM_011540198.2:c.3333+119_3333+128del	XP_011538500.1:n.3333+119_3333+128del
XM_011540199.2:c.3333+119_3333+128del	XP_011538501.1:n.3333+119_3333+128del
XM_011540200.2:c.3450+119_3450+128del	XP_011538502.1:n.3450+119_3450+128del
XM_011540201.2:c.3450+119_3450+128del	XP_011538503.1:n.3450+119_3450+128del
XM_011540202.2:c.2679+119_2679+128del	XP_011538504.1:n.2679+119_2679+128del
XM_017016681.1:c.3447+119_3447+128del	XP_016872170.1:n.3447+119_3447+128del
XM_017016682.1:c.3102+119_3102+128del	XP_016872171.1:n.3102+119_3102+128del
XM_024448177.1:c.1836+119_1836+128del	XP_024303945.1:n.1836+119_1836+128del
XM_024448178.1:c.1233+119_1233+128del	XP_024303946.1:n.1233+119_1233+128del
XR_002957015.1:n.3219+119_3219+128del
NM_025145.7:c.3333+119_3333+128del MANE Select	NP_079421.5:n.3333+119_3333+128del