Canonical Allele Identifier: CA2845535429

Gene: ANKH

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871339_14871340insCCGGGCGAGGGGCGCG , CM000667.2:g.14871339_14871340insCCGGGCGAGGGGCGCG	GRCh38
NC_000005.9:g.14871448_14871449insCCGGGCGAGGGGCGCG , CM000667.1:g.14871448_14871449insCCGGGCGAGGGGCGCG	GRCh37
NC_000005.8:g.14924448_14924449insCCGGGCGAGGGGCGCG	NCBI36
NG_008273.1:g.5440_5441insGCGCCCCTCGCCCGGC
NG_008273.2:g.5447_5448insGCGCCCCTCGCCCGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.96+13_96+14insGCGCCCCTCGCCCGGC MANE Select	ENSP00000284268.6:n.96+13_96+14insGCGCCCCTCGCCCGGC
ENST00000284268.6:c.96+13_96+14insGCGCCCCTCGCCCGGC	ENSP00000284268.6:n.96+13_96+14insGCGCCCCTCGCCCGGC
ENST00000505140.1:c.109_110insGCGCCCCTCGCCCGGC	ENSP00000426332.1:p.Pro37ArgfsTer?
ENST00000513115.1:n.121+13_121+14insGCGCCCCTCGCCCGGC
NM_054027.4:c.96+13_96+14insGCGCCCCTCGCCCGGC	NP_473368.1:n.96+13_96+14insGCGCCCCTCGCCCGGC
XM_011514067.1:c.96+13_96+14insGCGCCCCTCGCCCGGC	XP_011512369.1:n.96+13_96+14insGCGCCCCTCGCCCGGC
NM_054027.5:c.96+13_96+14insGCGCCCCTCGCCCGGC	NP_473368.1:n.96+13_96+14insGCGCCCCTCGCCCGGC
NM_054027.6:c.96+13_96+14insGCGCCCCTCGCCCGGC MANE Select	NP_473368.1:n.96+13_96+14insGCGCCCCTCGCCCGGC