Canonical Allele Identifier: CA2673314711

Gene: ANKH

Linked Data

• gnomAD v4: 5-14871506-AGGCGAGGGGCGACGGGGCGACGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871513_14871535del , CM000667.2:g.14871513_14871535del	GRCh38
NC_000005.9:g.14871622_14871644del , CM000667.1:g.14871622_14871644del	GRCh37
NC_000005.8:g.14924622_14924644del	NCBI36
NG_008273.1:g.5250_5272del
NG_008273.2:g.5257_5279del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-82_-60del MANE Select	ENSP00000284268.6:n.-82_-60del
ENST00000284268.6:c.-82_-60del	ENSP00000284268.6:n.-82_-60del
ENST00000505140.1:c.-82_-60del	ENSP00000426332.1:n.-82_-60del
NM_054027.4:c.-82_-60del	NP_473368.1:n.-82_-60del
XM_011514067.1:c.-82_-60del	XP_011512369.1:n.-82_-60del
NM_054027.5:c.-82_-60del	NP_473368.1:n.-82_-60del
NM_054027.6:c.-82_-60del MANE Select	NP_473368.1:n.-82_-60del