Canonical Allele Identifier: CA565938691

Gene: GMNN

Linked Data

• dbSNP Id: rs1358593049
• gnomAD v2: 6-24777473-TAATG-T
• gnomAD v4: 6-24777245-TAATG-T
• MyVariant Identifiers: chr6:g.24777474_24777477del (hg19) ; chr6:g.24777246_24777249del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24777249_24777252del , CM000668.2:g.24777249_24777252del	GRCh38
NC_000006.11:g.24777477_24777480del , CM000668.1:g.24777477_24777480del	GRCh37
NC_000006.10:g.24885456_24885459del	NCBI36
NG_030440.1:g.7319_7322del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230056.8:c.3_6del MANE Select	ENSP00000230056.3:p.Met1IlefsTer4
ENST00000230056.7:c.3_6del	ENSP00000230056.3:p.Met1IlefsTer4
ENST00000356509.7:c.3_6del	ENSP00000348902.3:p.Met1IlefsTer4
ENST00000378054.6:c.3_6del	ENSP00000367293.2:p.Met1IlefsTer4
ENST00000378059.3:c.3_6del	ENSP00000367298.3:p.Met1IlefsTer4
ENST00000468943.1:n.192_195del
ENST00000476555.5:c.3_6del	ENSP00000419584.1:p.Met1IlefsTer4
ENST00000620958.4:c.3_6del	ENSP00000477506.1:p.Met1IlefsTer4
NM_001251989.1:c.3_6del	NP_001238918.1:p.Met1IlefsTer4
NM_001251990.1:c.3_6del	NP_001238919.1:p.Met1IlefsTer4
NM_001251991.1:c.3_6del	NP_001238920.1:p.Met1IlefsTer4
NM_015895.4:c.3_6del	NP_056979.1:p.Met1IlefsTer4
XM_005249159.1:c.3_6del	XP_005249216.1:p.Met1IlefsTer4
XM_005249159.2:c.3_6del	XP_005249216.1:p.Met1IlefsTer4
NM_015895.5:c.3_6del MANE Select	NP_056979.1:p.Met1IlefsTer4
NM_001251989.2:c.3_6del	NP_001238918.1:p.Met1IlefsTer4
NM_001251990.2:c.3_6del	NP_001238919.1:p.Met1IlefsTer4