Canonical Allele Identifier: CA1528949026

Gene: ANKH

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871329_14871336delinsTGGGGCGC , CM000667.2:g.14871329_14871336delinsTGGGGCGC	GRCh38
NC_000005.9:g.14871438_14871445delinsTGGGGCGC , CM000667.1:g.14871438_14871445delinsTGGGGCGC	GRCh37
NC_000005.8:g.14924438_14924445delinsTGGGGCGC	NCBI36
NG_008273.1:g.5443_5450delinsGCGCCCCA
NG_008273.2:g.5450_5457delinsGCGCCCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.96+16_96+23delinsGCGCCCCA MANE Select	ENSP00000284268.6:n.96+16_96+23delinsGCGCCCCA
ENST00000284268.6:c.96+16_96+23delinsGCGCCCCA	ENSP00000284268.6:n.96+16_96+23delinsGCGCCCCA
ENST00000505140.1:c.112_119delinsGCGCCCCA	ENSP00000426332.1:p.Ala38=
ENST00000513115.1:n.121+16_121+23delinsGCGCCCCA
NM_054027.4:c.96+16_96+23delinsGCGCCCCA	NP_473368.1:n.96+16_96+23delinsGCGCCCCA
XM_011514067.1:c.96+16_96+23delinsGCGCCCCA	XP_011512369.1:n.96+16_96+23delinsGCGCCCCA
NM_054027.5:c.96+16_96+23delinsGCGCCCCA	NP_473368.1:n.96+16_96+23delinsGCGCCCCA
NM_054027.6:c.96+16_96+23delinsGCGCCCCA MANE Select	NP_473368.1:n.96+16_96+23delinsGCGCCCCA