Canonical Allele Identifier: CA2620427354

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101757569-T-TCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757569_101757570insCAA , CM000674.2:g.101757569_101757570insCAA	GRCh38
NC_000012.11:g.102151347_102151348insCAA , CM000674.1:g.102151347_102151348insCAA	GRCh37
NC_000012.10:g.100675478_100675479insCAA	NCBI36
NG_021243.1:g.78298_78299insTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3335+2_3335+3insTTG MANE Select	ENSP00000299314.7:n.3335+2_3335+3insTTG
ENST00000299314.11:c.3335+2_3335+3insTTG	ENSP00000299314.7:n.3335+2_3335+3insTTG
ENST00000549194.1:n.201+2_201+3insTTG
ENST00000549738.5:c.86+2_86+3insTTG	ENSP00000450161.1:n.86+2_86+3insTTG
ENST00000550718.1:c.147+2_147+3insTTG
NM_024312.4:c.3335+2_3335+3insTTG	NP_077288.2:n.3335+2_3335+3insTTG
XM_006719593.2:c.3335+2_3335+3insTTG	XP_006719656.1:n.3335+2_3335+3insTTG
XM_011538731.1:c.3254+2_3254+3insTTG	XP_011537033.1:n.3254+2_3254+3insTTG
XM_006719593.3:c.3335+2_3335+3insTTG	XP_006719656.1:n.3335+2_3335+3insTTG
XM_011538731.2:c.3254+2_3254+3insTTG	XP_011537033.1:n.3254+2_3254+3insTTG
XM_017019961.1:c.3119+2_3119+3insTTG	XP_016875450.1:n.3119+2_3119+3insTTG
XM_017019962.2:c.2108+2_2108+3insTTG	XP_016875451.1:n.2108+2_2108+3insTTG
NM_024312.5:c.3335+2_3335+3insTTG MANE Select	NP_077288.2:n.3335+2_3335+3insTTG