Canonical Allele Identifier: CA3209269

Gene: ANKH

Linked Data

• ClinVar Variation Id: 1178798
• ClinVar RCV Id: RCV001535166
• dbSNP Id: rs766399019
• ExAC: 5:14871557 A / AGTCCCCGCCGTGGGCT
• gnomAD v2: 5-14871557-A-AGTCCCCGCCGTGGGCT
• gnomAD v3: 5-14871448-A-AGTCCCCGCCGTGGGCT
• gnomAD v4: 5-14871448-A-AGTCCCCGCCGTGGGCT
• MyVariant Identifiers: chr5:g.14871557_14871558insGTCCCCGCCGTGGGCT (hg19) ; chr5:g.14871448_14871449insGTCCCCGCCGTGGGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871450_14871465dup , CM000667.2:g.14871450_14871465dup	GRCh38
NC_000005.9:g.14871559_14871574dup , CM000667.1:g.14871559_14871574dup	GRCh37
NC_000005.8:g.14924559_14924574dup	NCBI36
NG_008273.1:g.5315_5330dup
NG_008273.2:g.5322_5337dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-17_-2dup MANE Select	ENSP00000284268.6:n.-17_-2dup
ENST00000284268.6:c.-17_-2dup	ENSP00000284268.6:n.-17_-2dup
ENST00000505140.1:c.-17_-2dup	ENSP00000426332.1:n.-17_-2dup
ENST00000513115.1:n.9_24dup
NM_054027.4:c.-17_-2dup	NP_473368.1:n.-17_-2dup
XM_011514067.1:c.-17_-2dup	XP_011512369.1:n.-17_-2dup
NM_054027.5:c.-17_-2dup	NP_473368.1:n.-17_-2dup
NM_054027.6:c.-17_-2dup MANE Select	NP_473368.1:n.-17_-2dup