Canonical Allele Identifier: CA481320793

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1349923864
• gnomAD v2: 12-102164532-T-TA
• gnomAD v3: 12-101770754-T-TA
• gnomAD v4: 12-101770754-T-TA
• MyVariant Identifiers: chr12:g.102164532_102164533insA (hg19) ; chr12:g.101770754_101770755insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770754_101770755insA , CM000674.2:g.101770754_101770755insA	GRCh38
NC_000012.11:g.102164532_102164533insA , CM000674.1:g.102164532_102164533insA	GRCh37
NC_000012.10:g.100688663_100688664insA	NCBI36
NG_021243.1:g.65113_65114insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.934-170_934-169insT MANE Select	ENSP00000299314.7:n.934-170_934-169insT
ENST00000299314.11:c.934-170_934-169insT	ENSP00000299314.7:n.934-170_934-169insT
ENST00000549940.5:c.934-170_934-169insT	ENSP00000449150.1:n.934-170_934-169insT
NM_024312.4:c.934-170_934-169insT	NP_077288.2:n.934-170_934-169insT
XM_006719593.2:c.934-170_934-169insT	XP_006719656.1:n.934-170_934-169insT
XM_011538731.1:c.853-170_853-169insT	XP_011537033.1:n.853-170_853-169insT
XM_006719593.3:c.934-170_934-169insT	XP_006719656.1:n.934-170_934-169insT
XM_011538731.2:c.853-170_853-169insT	XP_011537033.1:n.853-170_853-169insT
XM_017019961.1:c.718-170_718-169insT	XP_016875450.1:n.718-170_718-169insT
XM_017019962.2:c.-417-47_-417-46insT	XP_016875451.1:n.-417-47_-417-46insT
NM_024312.5:c.934-170_934-169insT MANE Select	NP_077288.2:n.934-170_934-169insT