Canonical Allele Identifier: CA2673314836

Gene: ANKH

Linked Data

• gnomAD v4: 5-14871576-G-GACAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871576_14871577insACAGA , CM000667.2:g.14871576_14871577insACAGA	GRCh38
NC_000005.9:g.14871685_14871686insACAGA , CM000667.1:g.14871685_14871686insACAGA	GRCh37
NC_000005.8:g.14924685_14924686insACAGA	NCBI36
NG_008273.1:g.5202_5203insTCTGT
NG_008273.2:g.5209_5210insTCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-130_-129insTCTGT MANE Select	ENSP00000284268.6:n.-130_-129insTCTGT
ENST00000284268.6:c.-130_-129insTCTGT	ENSP00000284268.6:n.-130_-129insTCTGT
ENST00000505140.1:c.-130_-129insTCTGT	ENSP00000426332.1:n.-130_-129insTCTGT
NM_054027.4:c.-130_-129insTCTGT	NP_473368.1:n.-130_-129insTCTGT
XM_011514067.1:c.-130_-129insTCTGT	XP_011512369.1:n.-130_-129insTCTGT
NM_054027.5:c.-130_-129insTCTGT	NP_473368.1:n.-130_-129insTCTGT
NM_054027.6:c.-130_-129insTCTGT MANE Select	NP_473368.1:n.-130_-129insTCTGT