Canonical Allele Identifier: CA1528880720

Gene: ANKH

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716615_14716616delinsGT , CM000667.2:g.14716615_14716616delinsGT	GRCh38
NC_000005.9:g.14716724_14716725delinsGT , CM000667.1:g.14716724_14716725delinsGT	GRCh37
NC_000005.8:g.14769724_14769725delinsGT	NCBI36
NG_008273.1:g.160163_160164delinsAC
NG_008273.2:g.160170_160171delinsAC
NG_051625.1:g.60822_60823delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1141+90_1141+91delinsAC MANE Select	ENSP00000284268.6:n.1141+90_1141+91delinsAC
ENST00000284268.6:c.1141+90_1141+91delinsAC	ENSP00000284268.6:n.1141+90_1141+91delinsAC
ENST00000502585.1:n.383+90_383+91delinsAC
NM_054027.4:c.1141+90_1141+91delinsAC	NP_473368.1:n.1141+90_1141+91delinsAC
NM_054027.5:c.1141+90_1141+91delinsAC	NP_473368.1:n.1141+90_1141+91delinsAC
XM_017009644.2:c.1057+90_1057+91delinsAC	XP_016865133.1:n.1057+90_1057+91delinsAC
NM_054027.6:c.1141+90_1141+91delinsAC MANE Select	NP_473368.1:n.1141+90_1141+91delinsAC