Canonical Allele Identifier: CA2638145953

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006760_44006761insCTGTC , CM000679.2:g.44006760_44006761insCTGTC GRCh38
NC_000017.10:g.42084128_42084129insCTGTC , CM000679.1:g.42084128_42084129insCTGTC GRCh37
NC_000017.9:g.39439654_39439655insCTGTC NCBI36
NG_008106.1:g.7097_7098insCTGTC
NG_023338.1:g.2710_2711insACAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1096+51_1096+52insCTGTC (NAGS) MANE Select ENSP00000293404.2:n.1096+51_1096+52insCTGTC
ENST00000293404.7:c.1096+51_1096+52insCTGTC (NAGS) ENSP00000293404.2:n.1096+51_1096+52insCTGTC
ENST00000589767.1:c.1003+51_1003+52insCTGTC (NAGS) ENSP00000465408.1:n.1003+51_1003+52insCTGTC
ENST00000592915.1:n.422_423insCTGTC (NAGS)
NM_153006.2:c.1096+51_1096+52insCTGTC (NAGS) NP_694551.1:n.1096+51_1096+52insCTGTC
XM_011524438.1:c.1096+51_1096+52insCTGTC (NAGS) XP_011522740.1:n.1096+51_1096+52insCTGTC
XM_011524439.1:c.598+51_598+52insCTGTC (NAGS) XP_011522741.1:n.598+51_598+52insCTGTC
XM_011525035.1:c.-463+16812_-463+16813insACAGG (PYY) XP_011523337.1:n.-463+16812_-463+16813insACAGG
XM_011524439.2:c.598+51_598+52insCTGTC (NAGS) XP_011522741.1:n.598+51_598+52insCTGTC
NM_153006.3:c.1096+51_1096+52insCTGTC (NAGS) MANE Select NP_694551.1:n.1096+51_1096+52insCTGTC