Canonical Allele Identifier: CA805426571

Gene: ANKH

Linked Data

• dbSNP Id: rs1375765108
• gnomAD v4: 5-14871537-GGGGCGCGGGCCGACAGAGGCCGCGGGCGGCGGGGCCTC-G
• MyVariant Identifiers: chr5:g.14871647_14871684del (hg19) ; chr5:g.14871538_14871575del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871546_14871583del , CM000667.2:g.14871546_14871583del	GRCh38
NC_000005.9:g.14871655_14871692del , CM000667.1:g.14871655_14871692del	GRCh37
NC_000005.8:g.14924655_14924692del	NCBI36
NG_008273.1:g.5204_5241del
NG_008273.2:g.5211_5248del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-128_-91del MANE Select	ENSP00000284268.6:n.-128_-91del
ENST00000284268.6:c.-128_-91del	ENSP00000284268.6:n.-128_-91del
ENST00000505140.1:c.-128_-91del	ENSP00000426332.1:n.-128_-91del
NM_054027.4:c.-128_-91del	NP_473368.1:n.-128_-91del
XM_011514067.1:c.-128_-91del	XP_011512369.1:n.-128_-91del
NM_054027.5:c.-128_-91del	NP_473368.1:n.-128_-91del
NM_054027.6:c.-128_-91del MANE Select	NP_473368.1:n.-128_-91del