Canonical Allele Identifier: CA3658785

Gene: GMNN

Linked Data

• ClinVar Variation Id: 1529638
• ClinVar RCV Id: RCV002087213
• dbSNP Id: rs756197969
• ExAC: 6:24777542 CTT / C
• gnomAD v2: 6-24777542-CTT-C
• gnomAD v3: 6-24777314-CTT-C
• gnomAD v4: 6-24777314-CTT-C
• MyVariant Identifiers: chr6:g.24777543_24777544del (hg19) ; chr6:g.24777316_24777317del (hg38) ; chr6:g.24777315_24777316del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24777316_24777317del , CM000668.2:g.24777316_24777317del	GRCh38
NC_000006.11:g.24777544_24777545del , CM000668.1:g.24777544_24777545del	GRCh37
NC_000006.10:g.24885523_24885524del	NCBI36
NG_030440.1:g.7386_7387del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230056.8:c.51+19_51+20del MANE Select	ENSP00000230056.3:n.51+19_51+20del
ENST00000230056.7:c.51+19_51+20del	ENSP00000230056.3:n.51+19_51+20del
ENST00000356509.7:c.51+19_51+20del	ENSP00000348902.3:n.51+19_51+20del
ENST00000378054.6:c.51+19_51+20del	ENSP00000367293.2:n.51+19_51+20del
ENST00000378059.3:c.51+19_51+20del	ENSP00000367298.3:n.51+19_51+20del
ENST00000468943.1:n.259_260del
ENST00000476555.5:c.51+19_51+20del	ENSP00000419584.1:n.51+19_51+20del
ENST00000620958.4:c.51+19_51+20del	ENSP00000477506.1:n.51+19_51+20del
NM_001251989.1:c.51+19_51+20del	NP_001238918.1:n.51+19_51+20del
NM_001251990.1:c.51+19_51+20del	NP_001238919.1:n.51+19_51+20del
NM_001251991.1:c.51+19_51+20del	NP_001238920.1:n.51+19_51+20del
NM_015895.4:c.51+19_51+20del	NP_056979.1:n.51+19_51+20del
XM_005249159.1:c.51+19_51+20del	XP_005249216.1:n.51+19_51+20del
XM_005249159.2:c.51+19_51+20del	XP_005249216.1:n.51+19_51+20del
NM_015895.5:c.51+19_51+20del MANE Select	NP_056979.1:n.51+19_51+20del
NM_001251989.2:c.51+19_51+20del	NP_001238918.1:n.51+19_51+20del
NM_001251990.2:c.51+19_51+20del	NP_001238919.1:n.51+19_51+20del