Canonical Allele Identifier: CA607383711

Gene: GNPTAB

Linked Data

• dbSNP Id: rs763614126
• gnomAD v2: 12-102224494-C-CTGA
• gnomAD v3: 12-101830716-C-CTGA
• gnomAD v4: 12-101830716-C-CTGA
• MyVariant Identifiers: chr12:g.102224494_102224495insTGA (hg19) ; chr12:g.101830716_101830717insTGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830716_101830717insTGA , CM000674.2:g.101830716_101830717insTGA	GRCh38
NC_000012.11:g.102224494_102224495insTGA , CM000674.1:g.102224494_102224495insTGA	GRCh37
NC_000012.10:g.100748625_100748626insTGA	NCBI36
NG_021243.1:g.5151_5152insTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-42_-41insTCA MANE Select	ENSP00000299314.7:n.-42_-41insTCA
ENST00000299314.11:c.-42_-41insTCA	ENSP00000299314.7:n.-42_-41insTCA
ENST00000392919.4:c.-42_-41insTCA	ENSP00000376651.4:n.-42_-41insTCA
ENST00000549940.5:c.-42_-41insTCA	ENSP00000449150.1:n.-42_-41insTCA
NM_024312.4:c.-42_-41insTCA	NP_077288.2:n.-42_-41insTCA
XM_006719593.2:c.-42_-41insTCA	XP_006719656.1:n.-42_-41insTCA
XM_006719593.3:c.-42_-41insTCA	XP_006719656.1:n.-42_-41insTCA
XM_017019961.1:c.-191_-190insTCA	XP_016875450.1:n.-191_-190insTCA
XM_017019962.2:c.-1392_-1391insTCA	XP_016875451.1:n.-1392_-1391insTCA
NM_024312.5:c.-42_-41insTCA MANE Select	NP_077288.2:n.-42_-41insTCA