Canonical Allele Identifier: CA558016031

Gene: ANKH

Linked Data

• dbSNP Id: rs1230494909
• gnomAD v2: 5-14871636-CGGGGCG-C
• gnomAD v3: 5-14871527-CGGGGCG-C
• gnomAD v4: 5-14871527-CGGGGCG-C
• MyVariant Identifiers: chr5:g.14871637_14871642del (hg19) ; chr5:g.14871528_14871533del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871528_14871533del , CM000667.2:g.14871528_14871533del	GRCh38
NC_000005.9:g.14871637_14871642del , CM000667.1:g.14871637_14871642del	GRCh37
NC_000005.8:g.14924637_14924642del	NCBI36
NG_008273.1:g.5246_5251del
NG_008273.2:g.5253_5258del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-86_-81del MANE Select	ENSP00000284268.6:n.-86_-81del
ENST00000284268.6:c.-86_-81del	ENSP00000284268.6:n.-86_-81del
ENST00000505140.1:c.-86_-81del	ENSP00000426332.1:n.-86_-81del
NM_054027.4:c.-86_-81del	NP_473368.1:n.-86_-81del
XM_011514067.1:c.-86_-81del	XP_011512369.1:n.-86_-81del
NM_054027.5:c.-86_-81del	NP_473368.1:n.-86_-81del
NM_054027.6:c.-86_-81del MANE Select	NP_473368.1:n.-86_-81del