Canonical Allele Identifier: CA2673314744

Gene: ANKH

Linked Data

• gnomAD v4: 5-14871518-ACGGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871521_14871525del , CM000667.2:g.14871521_14871525del	GRCh38
NC_000005.9:g.14871630_14871634del , CM000667.1:g.14871630_14871634del	GRCh37
NC_000005.8:g.14924630_14924634del	NCBI36
NG_008273.1:g.5256_5260del
NG_008273.2:g.5263_5267del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-76_-72del MANE Select	ENSP00000284268.6:n.-76_-72del
ENST00000284268.6:c.-76_-72del	ENSP00000284268.6:n.-76_-72del
ENST00000505140.1:c.-76_-72del	ENSP00000426332.1:n.-76_-72del
NM_054027.4:c.-76_-72del	NP_473368.1:n.-76_-72del
XM_011514067.1:c.-76_-72del	XP_011512369.1:n.-76_-72del
NM_054027.5:c.-76_-72del	NP_473368.1:n.-76_-72del
NM_054027.6:c.-76_-72del MANE Select	NP_473368.1:n.-76_-72del