Canonical Allele Identifier: CA2058954181

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760020_101760022delinsTTC , CM000674.2:g.101760020_101760022delinsTTC	GRCh38
NC_000012.11:g.102153798_102153800delinsTTC , CM000674.1:g.102153798_102153800delinsTTC	GRCh37
NC_000012.10:g.100677929_100677931delinsTTC	NCBI36
NG_021243.1:g.75846_75848delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3249+8_3249+10delinsGAA MANE Select	ENSP00000299314.7:n.3249+8_3249+10delinsGAA
ENST00000299314.11:c.3249+8_3249+10delinsGAA	ENSP00000299314.7:n.3249+8_3249+10delinsGAA
ENST00000549194.1:n.115+8_115+10delinsGAA
ENST00000550718.1:c.61+8_61+10delinsGAA
NM_024312.4:c.3249+8_3249+10delinsGAA	NP_077288.2:n.3249+8_3249+10delinsGAA
XM_006719593.2:c.3249+8_3249+10delinsGAA	XP_006719656.1:n.3249+8_3249+10delinsGAA
XM_011538731.1:c.3168+8_3168+10delinsGAA	XP_011537033.1:n.3168+8_3168+10delinsGAA
XM_006719593.3:c.3249+8_3249+10delinsGAA	XP_006719656.1:n.3249+8_3249+10delinsGAA
XM_011538731.2:c.3168+8_3168+10delinsGAA	XP_011537033.1:n.3168+8_3168+10delinsGAA
XM_017019961.1:c.3033+8_3033+10delinsGAA	XP_016875450.1:n.3033+8_3033+10delinsGAA
XM_017019962.2:c.2022+8_2022+10delinsGAA	XP_016875451.1:n.2022+8_2022+10delinsGAA
NM_024312.5:c.3249+8_3249+10delinsGAA MANE Select	NP_077288.2:n.3249+8_3249+10delinsGAA