Canonical Allele Identifier: CA2693563179

Gene: UBA1

Linked Data

• gnomAD v4: X-47193778-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47193779del , CM000685.2:g.47193779del	GRCh38
NC_000023.10:g.47053178del , CM000685.1:g.47053178del	GRCh37
NC_000023.9:g.46938122del	NCBI36
NG_009161.1:g.7980del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377351.8:c.-1+2829del	ENSP00000366568.4:n.-1+2829del
ENST00000412206.5:c.-1+2045del	ENSP00000415033.1:n.-1+2045del
ENST00000427561.5:c.-6+2212del	ENSP00000397816.1:n.-6+2212del
NM_153280.2:c.-1+2829del	NP_695012.1:n.-1+2829del
XM_005272649.1:c.-306del	XP_005272706.1:n.-306del
XM_005272650.1:c.-360del	XP_005272707.1:n.-360del
XM_011543953.1:c.-323del	XP_011542255.1:n.-323del
XM_011543954.1:c.-251del	XP_011542256.1:n.-251del
XM_011543955.1:c.-303del	XP_011542257.1:n.-303del
NM_153280.3:c.-1+2829del	NP_695012.1:n.-1+2829del