Canonical Allele Identifier: CA805426662
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs1194221680
gnomAD v4: 5-14871697-C-CG
MyVariant Identifiers: chr5:g.14871806_14871807insG (hg19) chr5:g.14871697_14871698insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871700dup , CM000667.2:g.14871700dup GRCh38
NC_000005.9:g.14871809dup , CM000667.1:g.14871809dup GRCh37
NC_000005.8:g.14924809dup NCBI36
NG_008273.1:g.5081dup
NG_008273.2:g.5088dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.-251dup MANE Select ENSP00000284268.6:n.-251dup
ENST00000284268.6:c.-251dup ENSP00000284268.6:n.-251dup
ENST00000505140.1:c.-251dup ENSP00000426332.1:n.-251dup
NM_054027.4:c.-251dup NP_473368.1:n.-251dup
XM_011514067.1:c.-251dup XP_011512369.1:n.-251dup
NM_054027.5:c.-251dup NP_473368.1:n.-251dup
NM_054027.6:c.-251dup MANE Select NP_473368.1:n.-251dup
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