Canonical Allele Identifier: CA805272443
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs1252189241
gnomAD v3: 5-14716639-TC-T
gnomAD v4: 5-14716639-TC-T
MyVariant Identifiers: chr5:g.14716749del (hg19) chr5:g.14716640del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716641del , CM000667.2:g.14716641del GRCh38
NC_000005.9:g.14716750del , CM000667.1:g.14716750del GRCh37
NC_000005.8:g.14769750del NCBI36
NG_008273.1:g.160139del
NG_008273.2:g.160146del
NG_051625.1:g.60848del

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.1141+66del MANE Select ENSP00000284268.6:n.1141+66del
ENST00000284268.6:c.1141+66del ENSP00000284268.6:n.1141+66del
ENST00000502585.1:n.383+66del
NM_054027.4:c.1141+66del NP_473368.1:n.1141+66del
NM_054027.5:c.1141+66del NP_473368.1:n.1141+66del
XM_017009644.2:c.1057+66del XP_016865133.1:n.1057+66del
NM_054027.6:c.1141+66del MANE Select NP_473368.1:n.1141+66del
Search 100 bp 5'
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