Canonical Allele Identifier: CA6746393

Gene: GNPTAB

Linked Data

• dbSNP Id: rs767694919
• ExAC: 12:102158021 A / AAAAGCCC
• gnomAD v3: 12-101764243-A-AAAAGCCC
• gnomAD v4: 12-101764243-A-AAAAGCCC
• MyVariant Identifiers: chr12:g.102158021_102158022insAAAGCCC (hg19) ; chr12:g.101764243_101764244insAAAGCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764246_101764252dup , CM000674.2:g.101764246_101764252dup	GRCh38
NC_000012.11:g.102158024_102158030dup , CM000674.1:g.102158024_102158030dup	GRCh37
NC_000012.10:g.100682155_100682161dup	NCBI36
NG_021243.1:g.71618_71624dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.2667_2673dup MANE Select	ENSP00000299314.7:p.Leu892GlyfsTer30
ENST00000299314.11:c.2667_2673dup	ENSP00000299314.7:p.Leu892GlyfsTer30
NM_024312.4:c.2667_2673dup	NP_077288.2:p.Leu892GlyfsTer30
XM_006719593.2:c.2667_2673dup	XP_006719656.1:p.Leu892GlyfsTer30
XM_011538731.1:c.2586_2592dup	XP_011537033.1:p.Leu865GlyfsTer30
XM_006719593.3:c.2667_2673dup	XP_006719656.1:p.Leu892GlyfsTer30
XM_011538731.2:c.2586_2592dup	XP_011537033.1:p.Leu865GlyfsTer30
XM_017019961.1:c.2451_2457dup	XP_016875450.1:p.Leu820GlyfsTer30
XM_017019962.2:c.1440_1446dup	XP_016875451.1:p.Leu483GlyfsTer30
NM_024312.5:c.2667_2673dup MANE Select	NP_077288.2:p.Leu892GlyfsTer30