Canonical Allele Identifier: CA805426152

Gene: ANKH

Linked Data

• dbSNP Id: rs1384003757
• gnomAD v3: 5-14871329-TGGGGCGC-T
• gnomAD v4: 5-14871329-TGGGGCGC-T
• MyVariant Identifiers: chr5:g.14871439_14871445del (hg19) ; chr5:g.14871330_14871336del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871335_14871341del , CM000667.2:g.14871335_14871341del	GRCh38
NC_000005.9:g.14871444_14871450del , CM000667.1:g.14871444_14871450del	GRCh37
NC_000005.8:g.14924444_14924450del	NCBI36
NG_008273.1:g.5443_5449del
NG_008273.2:g.5450_5456del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.96+16_96+22del MANE Select	ENSP00000284268.6:n.96+16_96+22del
ENST00000284268.6:c.96+16_96+22del	ENSP00000284268.6:n.96+16_96+22del
ENST00000505140.1:c.112_118del	ENSP00000426332.1:p.Ala38ThrfsTer?
ENST00000513115.1:n.121+16_121+22del
NM_054027.4:c.96+16_96+22del	NP_473368.1:n.96+16_96+22del
XM_011514067.1:c.96+16_96+22del	XP_011512369.1:n.96+16_96+22del
NM_054027.5:c.96+16_96+22del	NP_473368.1:n.96+16_96+22del
NM_054027.6:c.96+16_96+22del MANE Select	NP_473368.1:n.96+16_96+22del