Canonical Allele Identifier: CA2573158407

Gene: OFD1

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13755242_13755255del , CM000685.2:g.13755242_13755255del	GRCh38
NC_000023.10:g.13773361_13773374del , CM000685.1:g.13773361_13773374del	GRCh37
NC_000023.9:g.13683282_13683295del	NCBI36
NG_008872.1:g.25530_25543del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*914_*914+13del
ENST00000398395.8:c.*794_*794+13del
ENST00000464463.6:n.1384_1384+13del
ENST00000490265.6:n.1750_1750+13del
ENST00000682237.1:c.*781_*781+13del
ENST00000682562.1:c.*2623_*2623+13del
ENST00000682953.1:c.*1948_*1948+13del
ENST00000683055.1:c.831-1336_831-1323del	ENSP00000508191.1:n.831-1336_831-1323del
ENST00000683284.1:c.*1452_*1452+13del
ENST00000683427.1:c.936-1336_936-1323del	ENSP00000507290.1:n.936-1336_936-1323del
ENST00000683454.1:n.1235_1235+13del
ENST00000683637.1:n.2330_2330+13del
ENST00000683655.1:c.*1435_*1435+13del
ENST00000683713.1:c.*1452_*1452+13del
ENST00000684577.1:c.*914_*914+13del
ENST00000340096.11:c.1221_1221+13del
ENST00000340096.10:c.1221_1221+13del
ENST00000380550.6:c.1101_1101+13del
ENST00000380567.5:c.801_801+13del
ENST00000398395.7:c.690_690+13del
ENST00000490265.5:n.2196_2196+13del
NM_003611.2:c.1221_1221+13del
XM_005274599.2:c.1242_1242+13del
XM_005274602.2:c.1242_1242+13del
XM_005274603.2:c.1122_1122+13del
XM_005274604.2:c.1101_1101+13del
XM_005274606.2:c.1077_1077+13del
XM_005274607.3:c.801_801+13del
XM_011545591.1:c.1242_1242+13del
XM_011545592.1:c.1029_1029+13del
XM_011545593.1:c.1242_1242+13del
XM_011545594.1:c.900_900+13del
XM_011545595.1:c.900_900+13del
XM_011545596.1:c.1242_1242+13del
XM_011545597.1:c.801_801+13del
XM_011545598.1:c.-54-1336_-54-1323del	XP_011543900.1:n.-54-1336_-54-1323del
XR_247288.2:n.1581_1581+13del
NM_001330209.1:c.1101_1101+13del
NM_001330210.1:c.801_801+13del
XM_005274606.4:c.1077_1077+13del
XM_011545592.3:c.1029_1029+13del
XM_011545594.3:c.900_900+13del
XM_011545597.2:c.801_801+13del
XM_017029909.1:c.801_801+13del
XM_017029911.1:c.279_279+13del
XM_024452468.1:c.-55_-55+13del
XM_024452469.1:c.-55_-55+13del
XM_024452470.1:c.-55_-55+13del
XM_024452471.1:c.-55_-55+13del
NM_003611.3:c.1221_1221+13del
NM_001330209.2:c.1101_1101+13del
NM_001330210.2:c.801_801+13del