Canonical Allele Identifier: CA2673314734

Gene: ANKH

Linked Data

• gnomAD v4: 5-14871516-C-CCAGTAGTGCGT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871516_14871517insCAGTAGTGCGT , CM000667.2:g.14871516_14871517insCAGTAGTGCGT	GRCh38
NC_000005.9:g.14871625_14871626insCAGTAGTGCGT , CM000667.1:g.14871625_14871626insCAGTAGTGCGT	GRCh37
NC_000005.8:g.14924625_14924626insCAGTAGTGCGT	NCBI36
NG_008273.1:g.5262_5263insACGCACTACTG
NG_008273.2:g.5269_5270insACGCACTACTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-70_-69insACGCACTACTG MANE Select	ENSP00000284268.6:n.-70_-69insACGCACTACTG
ENST00000284268.6:c.-70_-69insACGCACTACTG	ENSP00000284268.6:n.-70_-69insACGCACTACTG
ENST00000505140.1:c.-70_-69insACGCACTACTG	ENSP00000426332.1:n.-70_-69insACGCACTACTG
NM_054027.4:c.-70_-69insACGCACTACTG	NP_473368.1:n.-70_-69insACGCACTACTG
XM_011514067.1:c.-70_-69insACGCACTACTG	XP_011512369.1:n.-70_-69insACGCACTACTG
NM_054027.5:c.-70_-69insACGCACTACTG	NP_473368.1:n.-70_-69insACGCACTACTG
NM_054027.6:c.-70_-69insACGCACTACTG MANE Select	NP_473368.1:n.-70_-69insACGCACTACTG