Canonical Allele Identifier: CA223749

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 96116
• ClinVar RCV Id: RCV000180685
• dbSNP Id: rs398124396
• MyVariant Identifiers: chr12:g.102164260_102164261del (hg19) ; chr12:g.102164260_102164261delAT (hg19) ; chr12:g.101770482_101770483del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770484_101770485del , CM000674.2:g.101770484_101770485del	GRCh38
NC_000012.11:g.102164262_102164263del , CM000674.1:g.102164262_102164263del	GRCh37
NC_000012.10:g.100688393_100688394del	NCBI36
NG_021243.1:g.65385_65386del

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.1036_1037del MANE Select	ENSP00000299314.7:p.Ile346PhefsTer15
ENST00000299314.11:c.1036_1037del	ENSP00000299314.7:p.Ile346PhefsTer15
ENST00000549940.5:c.1036_1037del	ENSP00000449150.1:p.Ile346PhefsTer15
NM_024312.4:c.1036_1037del	NP_077288.2:p.Ile346PhefsTer15
XM_006719593.2:c.1036_1037del	XP_006719656.1:p.Ile346PhefsTer15
XM_011538731.1:c.955_956del	XP_011537033.1:p.Ile319PhefsTer15
XM_006719593.3:c.1036_1037del	XP_006719656.1:p.Ile346PhefsTer15
XM_011538731.2:c.955_956del	XP_011537033.1:p.Ile319PhefsTer15
XM_017019961.1:c.820_821del	XP_016875450.1:p.Ile274PhefsTer15
XM_017019962.2:c.-192_-191del	XP_016875451.1:n.-192_-191del
NM_024312.5:c.1036_1037del MANE Select	NP_077288.2:p.Ile346PhefsTer15