Canonical Allele Identifier: CA1528880571

Gene: ANKH OTULIN

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716334_14716336delinsAAT , CM000667.2:g.14716334_14716336delinsAAT	GRCh38
NC_000005.9:g.14716443_14716445delinsAAT , CM000667.1:g.14716443_14716445delinsAAT	GRCh37
NC_000005.8:g.14769443_14769445delinsAAT	NCBI36
NG_008273.1:g.160443_160445delinsATT
NG_008273.2:g.160450_160452delinsATT
NG_051625.1:g.60541_60543delinsAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1141+370_1141+372delinsATT (ANKH) MANE Select	ENSP00000284268.6:n.1141+370_1141+372delinsATT
ENST00000284268.6:c.1141+370_1141+372delinsATT (ANKH)	ENSP00000284268.6:n.1141+370_1141+372delinsATT
ENST00000502585.1:n.383+370_383+372delinsATT (ANKH)
NM_054027.4:c.1141+370_1141+372delinsATT (ANKH)	NP_473368.1:n.1141+370_1141+372delinsATT
NR_046285.1:n.2492-88_2492-86delinsAAT
NM_054027.5:c.1141+370_1141+372delinsATT (ANKH)	NP_473368.1:n.1141+370_1141+372delinsATT
XM_011514151.2:c.*3659_*3661delinsAAT (OTULIN)	XP_011512453.1:n.*3659_*3661delinsAAT
XM_017009644.2:c.1057+370_1057+372delinsATT (ANKH)	XP_016865133.1:n.1057+370_1057+372delinsATT
NM_054027.6:c.1141+370_1141+372delinsATT (ANKH) MANE Select	NP_473368.1:n.1141+370_1141+372delinsATT