Canonical Allele Identifier: CA2261182032

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006245_44006249delinsCCTTT , CM000679.2:g.44006245_44006249delinsCCTTT GRCh38
NC_000017.10:g.42083613_42083617delinsCCTTT , CM000679.1:g.42083613_42083617delinsCCTTT GRCh37
NC_000017.9:g.39439139_39439143delinsCCTTT NCBI36
NG_008106.1:g.6582_6586delinsCCTTT
NG_023338.1:g.3221_3225delinsAAAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.915+8_915+12delinsCCTTT (NAGS) MANE Select ENSP00000293404.2:n.915+8_915+12delinsCCTTT
ENST00000293404.7:c.915+8_915+12delinsCCTTT (NAGS) ENSP00000293404.2:n.915+8_915+12delinsCCTTT
ENST00000589767.1:c.822+8_822+12delinsCCTTT (NAGS) ENSP00000465408.1:n.822+8_822+12delinsCCTTT
ENST00000592915.1:n.190+8_190+12delinsCCTTT (NAGS)
NM_153006.2:c.915+8_915+12delinsCCTTT (NAGS) NP_694551.1:n.915+8_915+12delinsCCTTT
XM_011524438.1:c.915+8_915+12delinsCCTTT (NAGS) XP_011522740.1:n.915+8_915+12delinsCCTTT
XM_011524439.1:c.417+8_417+12delinsCCTTT (NAGS) XP_011522741.1:n.417+8_417+12delinsCCTTT
XM_011525035.1:c.-463+17323_-463+17327delinsAAAGG (PYY) XP_011523337.1:n.-463+17323_-463+17327delinsAAAGG
XM_011524439.2:c.417+8_417+12delinsCCTTT (NAGS) XP_011522741.1:n.417+8_417+12delinsCCTTT
NM_153006.3:c.915+8_915+12delinsCCTTT (NAGS) MANE Select NP_694551.1:n.915+8_915+12delinsCCTTT