Canonical Allele Identifier: CA558016038
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs1561093322
gnomAD v2: 5-14871643-AGC-A
gnomAD v3: 5-14871534-AGC-A
gnomAD v4: 5-14871534-AGC-A
MyVariant Identifiers: chr5:g.14871645_14871652delinsGGGCGC (hg19) chr5:g.14871536_14871543delinsGGGCGC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871536_14871537del , CM000667.2:g.14871536_14871537del GRCh38
NC_000005.9:g.14871645_14871646del , CM000667.1:g.14871645_14871646del GRCh37
NC_000005.8:g.14924645_14924646del NCBI36
NG_008273.1:g.5243_5244del
NG_008273.2:g.5250_5251del

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.-89_-88del MANE Select ENSP00000284268.6:n.-89_-88del
ENST00000284268.6:c.-89_-88del ENSP00000284268.6:n.-89_-88del
ENST00000505140.1:c.-89_-88del ENSP00000426332.1:n.-89_-88del
NM_054027.4:c.-89_-88del NP_473368.1:n.-89_-88del
XM_011514067.1:c.-89_-88del XP_011512369.1:n.-89_-88del
NM_054027.5:c.-89_-88del NP_473368.1:n.-89_-88del
NM_054027.6:c.-89_-88del MANE Select NP_473368.1:n.-89_-88del
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