Canonical Allele Identifier: CA2058985312

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830855_101830862delinsCGCTTCCG , CM000674.2:g.101830855_101830862delinsCGCTTCCG	GRCh38
NC_000012.11:g.102224633_102224640delinsCGCTTCCG , CM000674.1:g.102224633_102224640delinsCGCTTCCG	GRCh37
NC_000012.10:g.100748764_100748771delinsCGCTTCCG	NCBI36
NG_021243.1:g.5006_5013delinsCGGAAGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-187_-180delinsCGGAAGCG MANE Select	ENSP00000299314.7:n.-187_-180delinsCGGAAGCG
ENST00000299314.11:c.-187_-180delinsCGGAAGCG	ENSP00000299314.7:n.-187_-180delinsCGGAAGCG
NM_024312.4:c.-187_-180delinsCGGAAGCG	NP_077288.2:n.-187_-180delinsCGGAAGCG
XM_006719593.2:c.-187_-180delinsCGGAAGCG	XP_006719656.1:n.-187_-180delinsCGGAAGCG
NM_024312.5:c.-187_-180delinsCGGAAGCG MANE Select	NP_077288.2:n.-187_-180delinsCGGAAGCG