Canonical Allele Identifier: CA1139662822

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 917841
• ClinVar RCV Id: RCV001175117
• dbSNP Id: rs1952918542

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757468_101757673dup , CM000674.2:g.101757468_101757673dup	GRCh38
NC_000012.11:g.102151246_102151451dup , CM000674.1:g.102151246_102151451dup	GRCh37
NC_000012.10:g.100675377_100675582dup	NCBI36
NG_021243.1:g.78195_78400dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3250-16_3335+104dup
ENST00000299314.11:c.3250-16_3335+104dup
ENST00000549194.1:n.116-16_201+104dup
ENST00000550718.1:c.62-16_147+104dup
NM_024312.4:c.3250-16_3335+104dup
XM_006719593.2:c.3250-16_3335+104dup
XM_011538731.1:c.3169-16_3254+104dup
XM_006719593.3:c.3250-16_3335+104dup
XM_011538731.2:c.3169-16_3254+104dup
XM_017019961.1:c.3034-16_3119+104dup
XM_017019962.2:c.2023-16_2108+104dup
NM_024312.5:c.3250-16_3335+104dup