Canonical Allele Identifier: CA2695217194

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757254_101757257delinsAAAAG , CM000674.2:g.101757254_101757257delinsAAAAG	GRCh38
NC_000012.11:g.102151032_102151035delinsAAAAG , CM000674.1:g.102151032_102151035delinsAAAAG	GRCh37
NC_000012.10:g.100675163_100675166delinsAAAAG	NCBI36
NG_021243.1:g.78611_78614delinsCTTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3389_3392delinsCTTTT MANE Select	ENSP00000299314.7:p.Val1130AlafsTer10
ENST00000299314.11:c.3389_3392delinsCTTTT	ENSP00000299314.7:p.Val1130AlafsTer10
ENST00000549194.1:n.255_258delinsCTTTT
ENST00000549738.5:c.140_143delinsCTTTT	ENSP00000450161.1:p.Val47AlafsTer10
ENST00000550718.1:c.201_204delinsCTTTT
NM_024312.4:c.3389_3392delinsCTTTT	NP_077288.2:p.Val1130AlafsTer10
XM_006719593.2:c.3389_3392delinsCTTTT	XP_006719656.1:p.Val1130AlafsTer10
XM_011538731.1:c.3308_3311delinsCTTTT	XP_011537033.1:p.Val1103AlafsTer10
XM_006719593.3:c.3389_3392delinsCTTTT	XP_006719656.1:p.Val1130AlafsTer10
XM_011538731.2:c.3308_3311delinsCTTTT	XP_011537033.1:p.Val1103AlafsTer10
XM_017019961.1:c.3173_3176delinsCTTTT	XP_016875450.1:p.Val1058AlafsTer10
XM_017019962.2:c.2162_2165delinsCTTTT	XP_016875451.1:p.Val721AlafsTer10
NM_024312.5:c.3389_3392delinsCTTTT MANE Select	NP_077288.2:p.Val1130AlafsTer10