Canonical Allele Identifier: CA805330795

Gene: ANKH

Linked Data

• dbSNP Id: rs1463560228
• gnomAD v3: 5-14741755-CT-C
• gnomAD v4: 5-14741755-CT-C
• MyVariant Identifiers: chr5:g.14741865del (hg19) ; chr5:g.14741756del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14741758del , CM000667.2:g.14741758del	GRCh38
NC_000005.9:g.14741867del , CM000667.1:g.14741867del	GRCh37
NC_000005.8:g.14794867del	NCBI36
NG_008273.1:g.135023del
NG_008273.2:g.135030del

Transcript Alleles

HGVS	Amino-acid change
ENST00000284268.8:c.1011+71del MANE Select	ENSP00000284268.6:n.1011+71del
ENST00000284268.6:c.1011+71del	ENSP00000284268.6:n.1011+71del
ENST00000503939.5:n.523+71del
ENST00000515517.1:n.316del
NM_054027.4:c.1011+71del	NP_473368.1:n.1011+71del
XM_011514067.1:c.1011+71del	XP_011512369.1:n.1011+71del
NM_054027.5:c.1011+71del	NP_473368.1:n.1011+71del
XM_017009644.2:c.927+71del	XP_016865133.1:n.927+71del
NM_054027.6:c.1011+71del MANE Select	NP_473368.1:n.1011+71del