Canonical Allele Identifier: CA16609433

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 397558
• ClinVar RCV Id: RCV000449568
• dbSNP Id: rs1060499679
• MyVariant Identifiers: chr12:g.102164274_102164276del (hg19) ; chr12:g.101770496_101770498del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770498_101770500del , CM000674.2:g.101770498_101770500del	GRCh38
NC_000012.11:g.102164276_102164278del , CM000674.1:g.102164276_102164278del	GRCh37
NC_000012.10:g.100688407_100688409del	NCBI36
NG_021243.1:g.65370_65372del

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.1021_1023del MANE Select	ENSP00000299314.7:p.Pro341del
ENST00000299314.11:c.1021_1023del	ENSP00000299314.7:p.Pro341del
ENST00000549940.5:c.1021_1023del	ENSP00000449150.1:p.Pro341del
NM_024312.4:c.1021_1023del	NP_077288.2:p.Pro341del
XM_006719593.2:c.1021_1023del	XP_006719656.1:p.Pro341del
XM_011538731.1:c.940_942del	XP_011537033.1:p.Pro314del
XM_006719593.3:c.1021_1023del	XP_006719656.1:p.Pro341del
XM_011538731.2:c.940_942del	XP_011537033.1:p.Pro314del
XM_017019961.1:c.805_807del	XP_016875450.1:p.Pro269del
XM_017019962.2:c.-207_-205del	XP_016875451.1:n.-207_-205del
NM_024312.5:c.1021_1023del MANE Select	NP_077288.2:p.Pro341del