Canonical Allele Identifier: CA2673314732

Gene: ANKH

Linked Data

• gnomAD v4: 5-14871515-G-GCGACGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871522_14871523insTCGACGGG , CM000667.2:g.14871522_14871523insTCGACGGG	GRCh38
NC_000005.9:g.14871631_14871632insTCGACGGG , CM000667.1:g.14871631_14871632insTCGACGGG	GRCh37
NC_000005.8:g.14924631_14924632insTCGACGGG	NCBI36
NG_008273.1:g.5263_5264insACCCGTCG
NG_008273.2:g.5270_5271insACCCGTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-69_-68insACCCGTCG MANE Select	ENSP00000284268.6:n.-69_-68insACCCGTCG
ENST00000284268.6:c.-69_-68insACCCGTCG	ENSP00000284268.6:n.-69_-68insACCCGTCG
ENST00000505140.1:c.-69_-68insACCCGTCG	ENSP00000426332.1:n.-69_-68insACCCGTCG
NM_054027.4:c.-69_-68insACCCGTCG	NP_473368.1:n.-69_-68insACCCGTCG
XM_011514067.1:c.-69_-68insACCCGTCG	XP_011512369.1:n.-69_-68insACCCGTCG
NM_054027.5:c.-69_-68insACCCGTCG	NP_473368.1:n.-69_-68insACCCGTCG
NM_054027.6:c.-69_-68insACCCGTCG MANE Select	NP_473368.1:n.-69_-68insACCCGTCG