Canonical Allele Identifier: CA2637970071

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42541247-CAAAAAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541250_42541255del , CM000679.2:g.42541250_42541255del	GRCh38
NC_000017.10:g.40693268_40693273del , CM000679.1:g.40693268_40693273del	GRCh37
NC_000017.9:g.37946794_37946799del	NCBI36
NG_011552.1:g.10318_10323del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1021+44_1021+49del MANE Select	ENSP00000225927.1:n.1021+44_1021+49del
ENST00000225927.6:c.1021+44_1021+49del	ENSP00000225927.1:n.1021+44_1021+49del
ENST00000591587.1:c.360-1778_360-1773del	ENSP00000467836.1:n.360-1778_360-1773del
ENST00000592454.1:c.116+44_116+49del
NM_000263.3:c.1021+44_1021+49del	NP_000254.2:n.1021+44_1021+49del
XM_006721920.2:c.190+44_190+49del	XP_006721983.1:n.190+44_190+49del
XM_011524840.1:c.23-1778_23-1773del	XP_011523142.1:n.23-1778_23-1773del
XM_017024687.1:c.190+44_190+49del	XP_016880176.1:n.190+44_190+49del
XM_024450771.1:c.1078+44_1078+49del	XP_024306539.1:n.1078+44_1078+49del
XM_024450772.1:c.23-1778_23-1773del	XP_024306540.1:n.23-1778_23-1773del
NM_000263.4:c.1021+44_1021+49del MANE Select	NP_000254.2:n.1021+44_1021+49del