Canonical Allele Identifier: CA2673314955

Gene: ANKH

Linked Data

• gnomAD v4: 5-14871678-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871683_14871684del , CM000667.2:g.14871683_14871684del	GRCh38
NC_000005.9:g.14871792_14871793del , CM000667.1:g.14871792_14871793del	GRCh37
NC_000005.8:g.14924792_14924793del	NCBI36
NG_008273.1:g.5099_5100del
NG_008273.2:g.5106_5107del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-233_-232del MANE Select	ENSP00000284268.6:n.-233_-232del
ENST00000284268.6:c.-233_-232del	ENSP00000284268.6:n.-233_-232del
ENST00000505140.1:c.-233_-232del	ENSP00000426332.1:n.-233_-232del
NM_054027.4:c.-233_-232del	NP_473368.1:n.-233_-232del
XM_011514067.1:c.-233_-232del	XP_011512369.1:n.-233_-232del
NM_054027.5:c.-233_-232del	NP_473368.1:n.-233_-232del
NM_054027.6:c.-233_-232del MANE Select	NP_473368.1:n.-233_-232del