Canonical Allele Identifier: CA2058952873

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761544_101761545delinsCA , CM000674.2:g.101761544_101761545delinsCA	GRCh38
NC_000012.11:g.102155322_102155323delinsCA , CM000674.1:g.102155322_102155323delinsCA	GRCh37
NC_000012.10:g.100679453_100679454delinsCA	NCBI36
NG_021243.1:g.74323_74324delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2915+19_2915+20delinsTG MANE Select	ENSP00000299314.7:n.2915+19_2915+20delinsTG
ENST00000299314.11:c.2915+19_2915+20delinsTG	ENSP00000299314.7:n.2915+19_2915+20delinsTG
NM_024312.4:c.2915+19_2915+20delinsTG	NP_077288.2:n.2915+19_2915+20delinsTG
XM_006719593.2:c.2915+19_2915+20delinsTG	XP_006719656.1:n.2915+19_2915+20delinsTG
XM_011538731.1:c.2834+19_2834+20delinsTG	XP_011537033.1:n.2834+19_2834+20delinsTG
XM_006719593.3:c.2915+19_2915+20delinsTG	XP_006719656.1:n.2915+19_2915+20delinsTG
XM_011538731.2:c.2834+19_2834+20delinsTG	XP_011537033.1:n.2834+19_2834+20delinsTG
XM_017019961.1:c.2699+19_2699+20delinsTG	XP_016875450.1:n.2699+19_2699+20delinsTG
XM_017019962.2:c.1688+19_1688+20delinsTG	XP_016875451.1:n.1688+19_1688+20delinsTG
NM_024312.5:c.2915+19_2915+20delinsTG MANE Select	NP_077288.2:n.2915+19_2915+20delinsTG