Canonical Allele Identifier: CA1528949174

Gene: ANKH

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871534_14871543delinsAGCGGGGCGC , CM000667.2:g.14871534_14871543delinsAGCGGGGCGC	GRCh38
NC_000005.9:g.14871643_14871652delinsAGCGGGGCGC , CM000667.1:g.14871643_14871652delinsAGCGGGGCGC	GRCh37
NC_000005.8:g.14924643_14924652delinsAGCGGGGCGC	NCBI36
NG_008273.1:g.5236_5245delinsGCGCCCCGCT
NG_008273.2:g.5243_5252delinsGCGCCCCGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-96_-87delinsGCGCCCCGCT MANE Select	ENSP00000284268.6:n.-96_-87delinsGCGCCCCGCT
ENST00000284268.6:c.-96_-87delinsGCGCCCCGCT	ENSP00000284268.6:n.-96_-87delinsGCGCCCCGCT
ENST00000505140.1:c.-96_-87delinsGCGCCCCGCT	ENSP00000426332.1:n.-96_-87delinsGCGCCCCGCT
NM_054027.4:c.-96_-87delinsGCGCCCCGCT	NP_473368.1:n.-96_-87delinsGCGCCCCGCT
XM_011514067.1:c.-96_-87delinsGCGCCCCGCT	XP_011512369.1:n.-96_-87delinsGCGCCCCGCT
NM_054027.5:c.-96_-87delinsGCGCCCCGCT	NP_473368.1:n.-96_-87delinsGCGCCCCGCT
NM_054027.6:c.-96_-87delinsGCGCCCCGCT MANE Select	NP_473368.1:n.-96_-87delinsGCGCCCCGCT