Canonical Allele Identifier: CA626740864

Gene: MTMR4

Linked Data

• dbSNP Id: rs1353314930
• gnomAD v2: 17-56584039-AC-A
• gnomAD v3: 17-58506678-AC-A
• gnomAD v4: 17-58506678-AC-A
• MyVariant Identifiers: chr17:g.56584040del (hg19) ; chr17:g.58506679del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58506683del , CM000679.2:g.58506683del	GRCh38
NC_000017.10:g.56584044del , CM000679.1:g.56584044del	GRCh37
NC_000017.9:g.53939043del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682306.1:c.1033+64del MANE Select	ENSP00000507664.1:n.1033+64del
ENST00000323456.9:c.991+64del	ENSP00000325285.5:n.991+64del
ENST00000579925.5:c.991+64del	ENSP00000464067.1:n.991+64del
NM_004687.4:c.991+64del	NP_004678.3:n.991+64del
XM_005257784.2:c.1033+64del	XP_005257841.1:n.1033+64del
XM_005257785.3:c.1003+64del	XP_005257842.1:n.1003+64del
XM_005257786.3:c.991+64del	XP_005257843.1:n.991+64del
XM_006722168.2:c.991+64del	XP_006722231.1:n.991+64del
XM_011525460.1:c.1003+64del	XP_011523762.1:n.1003+64del
XM_005257785.5:c.1003+64del	XP_005257842.1:n.1003+64del
XM_005257786.5:c.991+64del	XP_005257843.1:n.991+64del
XM_006722168.4:c.991+64del	XP_006722231.1:n.991+64del
XM_011525460.3:c.1003+64del	XP_011523762.1:n.1003+64del
NM_004687.5:c.991+64del	NP_004678.3:n.991+64del
NM_001378066.1:c.1003+64del	NP_001364995.1:n.1003+64del
NM_001378067.1:c.1033+64del MANE Select	NP_001364996.1:n.1033+64del