Canonical Allele Identifier: CA1528880721

Gene: ANKH

Linked Data

• dbSNP Id: rs1737472058

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716617del , CM000667.2:g.14716617del	GRCh38
NC_000005.9:g.14716726del , CM000667.1:g.14716726del	GRCh37
NC_000005.8:g.14769726del	NCBI36
NG_008273.1:g.160163del
NG_008273.2:g.160170del
NG_051625.1:g.60824del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1141+90del MANE Select	ENSP00000284268.6:n.1141+90del
ENST00000284268.6:c.1141+90del	ENSP00000284268.6:n.1141+90del
ENST00000502585.1:n.383+90del
NM_054027.4:c.1141+90del	NP_473368.1:n.1141+90del
NM_054027.5:c.1141+90del	NP_473368.1:n.1141+90del
XM_017009644.2:c.1057+90del	XP_016865133.1:n.1057+90del
NM_054027.6:c.1141+90del MANE Select	NP_473368.1:n.1141+90del