Canonical Allele Identifier: CA2620428760

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101761709-C-CAAAAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761710_101761711insAAAATA , CM000674.2:g.101761710_101761711insAAAATA	GRCh38
NC_000012.11:g.102155488_102155489insAAAATA , CM000674.1:g.102155488_102155489insAAAATA	GRCh37
NC_000012.10:g.100679619_100679620insAAAATA	NCBI36
NG_021243.1:g.74158_74159insATTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2769_2770insATTTTT MANE Select	ENSP00000299314.7:p.Thr923_Gly924insIlePhe
ENST00000299314.11:c.2769_2770insATTTTT	ENSP00000299314.7:p.Thr923_Gly924insIlePhe
NM_024312.4:c.2769_2770insATTTTT	NP_077288.2:p.Thr923_Gly924insIlePhe
XM_006719593.2:c.2769_2770insATTTTT	XP_006719656.1:p.Thr923_Gly924insIlePhe
XM_011538731.1:c.2688_2689insATTTTT	XP_011537033.1:p.Thr896_Gly897insIlePhe
XM_006719593.3:c.2769_2770insATTTTT	XP_006719656.1:p.Thr923_Gly924insIlePhe
XM_011538731.2:c.2688_2689insATTTTT	XP_011537033.1:p.Thr896_Gly897insIlePhe
XM_017019961.1:c.2553_2554insATTTTT	XP_016875450.1:p.Thr851_Gly852insIlePhe
XM_017019962.2:c.1542_1543insATTTTT	XP_016875451.1:p.Thr514_Gly515insIlePhe
NM_024312.5:c.2769_2770insATTTTT MANE Select	NP_077288.2:p.Thr923_Gly924insIlePhe