Canonical Allele Identifier: CA176101692
Community Standard Title: NM_152419.3(HGSNAT):c.119-164del
Gene: HGSNAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.43146784del , CM000670.2:g.43146784del GRCh38
NC_000008.10:g.43001927del , CM000670.1:g.43001927del GRCh37
NC_000008.9:g.43121084del NCBI36
NG_009552.1:g.11336del

Transcript Alleles

HGVS Amino-acid Change
NM_152419.3:c.119-164del MANE Select NP_689632.2:n.119-164del
ENST00000379644.9:c.119-164del MANE Select ENSP00000368965.4:n.119-164del
NM_001363227.1:c.119-164del NP_001350156.1:n.119-164del
NM_001363227.2:c.119-164del NP_001350156.1:n.119-164del
NM_001363228.1:c.119-164del NP_001350157.1:n.119-164del
NM_001363228.2:c.119-164del NP_001350157.1:n.119-164del
NM_001363229.1:c.-715-164del NP_001350158.1:n.-715-164del
NM_001363229.2:c.-715-164del NP_001350158.1:n.-715-164del
NM_152419.2:c.119-164del NP_689632.2:n.119-164del
ENST00000379644.8:c.119-164del ENSP00000368965.4:n.119-164del
ENST00000517319.1:c.119-164del ENSP00000430032.1:n.119-164del
ENST00000520704.1:c.-32-164del ENSP00000429109.1:n.-32-164del
XM_005273409.1:c.119-164del XP_005273466.1:n.119-164del
XM_005273410.1:c.119-164del XP_005273467.1:n.119-164del
XM_005273411.1:c.119-164del XP_005273468.1:n.119-164del
XM_005273412.2:c.119-164del XP_005273469.1:n.119-164del
XM_005273412.4:c.119-164del XP_005273469.1:n.119-164del