Canonical Allele Identifier: CA2058952154

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757163_101757181delinsTTATTCAGGTTTATTTGCA , CM000674.2:g.101757163_101757181delinsTTATTCAGGTTTATTTGCA	GRCh38
NC_000012.11:g.102150941_102150959delinsTTATTCAGGTTTATTTGCA , CM000674.1:g.102150941_102150959delinsTTATTCAGGTTTATTTGCA	GRCh37
NC_000012.10:g.100675072_100675090delinsTTATTCAGGTTTATTTGCA	NCBI36
NG_021243.1:g.78687_78705delinsTGCAAATAAACCTGAATAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3434+31_3434+49delinsTGCAAATAAACCTGAATAA MANE Select	ENSP00000299314.7:n.3434+31_3434+49delinsTGCAAATAAACCTGAATAA
ENST00000299314.11:c.3434+31_3434+49delinsTGCAAATAAACCTGAATAA	ENSP00000299314.7:n.3434+31_3434+49delinsTGCAAATAAACCTGAATAA
ENST00000549194.1:n.331_349delinsTGCAAATAAACCTGAATAA
ENST00000549738.5:c.185+31_185+49delinsTGCAAATAAACCTGAATAA	ENSP00000450161.1:n.185+31_185+49delinsTGCAAATAAACCTGAATAA
ENST00000550718.1:c.246+31_246+49delinsTGCAAATAAACCTGAATAA
NM_024312.4:c.3434+31_3434+49delinsTGCAAATAAACCTGAATAA	NP_077288.2:n.3434+31_3434+49delinsTGCAAATAAACCTGAATAA
XM_006719593.2:c.3434+31_3434+49delinsTGCAAATAAACCTGAATAA	XP_006719656.1:n.3434+31_3434+49delinsTGCAAATAAACCTGAATAA
XM_011538731.1:c.3353+31_3353+49delinsTGCAAATAAACCTGAATAA	XP_011537033.1:n.3353+31_3353+49delinsTGCAAATAAACCTGAATAA
XM_006719593.3:c.3434+31_3434+49delinsTGCAAATAAACCTGAATAA	XP_006719656.1:n.3434+31_3434+49delinsTGCAAATAAACCTGAATAA
XM_011538731.2:c.3353+31_3353+49delinsTGCAAATAAACCTGAATAA	XP_011537033.1:n.3353+31_3353+49delinsTGCAAATAAACCTGAATAA
XM_017019961.1:c.3218+31_3218+49delinsTGCAAATAAACCTGAATAA	XP_016875450.1:n.3218+31_3218+49delinsTGCAAATAAACCTGAATAA
XM_017019962.2:c.2207+31_2207+49delinsTGCAAATAAACCTGAATAA	XP_016875451.1:n.2207+31_2207+49delinsTGCAAATAAACCTGAATAA
NM_024312.5:c.3434+31_3434+49delinsTGCAAATAAACCTGAATAA MANE Select	NP_077288.2:n.3434+31_3434+49delinsTGCAAATAAACCTGAATAA