Canonical Allele Identifier: CA2261182234

Linked Data

dbSNP Id: rs2049096340

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006649_44006651del , CM000679.2:g.44006649_44006651del GRCh38
NC_000017.10:g.42084017_42084019del , CM000679.1:g.42084017_42084019del GRCh37
NC_000017.9:g.39439543_39439545del NCBI36
NG_008106.1:g.6986_6988del
NG_023338.1:g.2823_2825del

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1036_1038del (NAGS) MANE Select ENSP00000293404.2:p.His346del
ENST00000293404.7:c.1036_1038del (NAGS) ENSP00000293404.2:p.His346del
ENST00000589767.1:c.943_945del (NAGS) ENSP00000465408.1:p.His315del
ENST00000592915.1:n.311_313del (NAGS)
NM_153006.2:c.1036_1038del (NAGS) NP_694551.1:p.His346del
XM_011524438.1:c.1036_1038del (NAGS) XP_011522740.1:p.His346del
XM_011524439.1:c.538_540del (NAGS) XP_011522741.1:p.His180del
XM_011525035.1:c.-463+16925_-463+16927del (PYY) XP_011523337.1:n.-463+16925_-463+16927del
XM_011524439.2:c.538_540del (NAGS) XP_011522741.1:p.His180del
NM_153006.3:c.1036_1038del (NAGS) MANE Select NP_694551.1:p.His346del