Canonical Allele Identifier: CA1528949234

Gene: ANKH

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871592_14871595delinsGCTC , CM000667.2:g.14871592_14871595delinsGCTC	GRCh38
NC_000005.9:g.14871701_14871704delinsGCTC , CM000667.1:g.14871701_14871704delinsGCTC	GRCh37
NC_000005.8:g.14924701_14924704delinsGCTC	NCBI36
NG_008273.1:g.5184_5187delinsGAGC
NG_008273.2:g.5191_5194delinsGAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-148_-145delinsGAGC MANE Select	ENSP00000284268.6:n.-148_-145delinsGAGC
ENST00000284268.6:c.-148_-145delinsGAGC	ENSP00000284268.6:n.-148_-145delinsGAGC
ENST00000505140.1:c.-148_-145delinsGAGC	ENSP00000426332.1:n.-148_-145delinsGAGC
NM_054027.4:c.-148_-145delinsGAGC	NP_473368.1:n.-148_-145delinsGAGC
XM_011514067.1:c.-148_-145delinsGAGC	XP_011512369.1:n.-148_-145delinsGAGC
NM_054027.5:c.-148_-145delinsGAGC	NP_473368.1:n.-148_-145delinsGAGC
NM_054027.6:c.-148_-145delinsGAGC MANE Select	NP_473368.1:n.-148_-145delinsGAGC