Canonical Allele Identifier: CA985016527

Gene: MTMR4

Linked Data

• gnomAD v3: 17-58506814-AGCAGCTT-A
• gnomAD v4: 17-58506814-AGCAGCTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58506815_58506821del , CM000679.2:g.58506815_58506821del	GRCh38
NC_000017.10:g.56584176_56584182del , CM000679.1:g.56584176_56584182del	GRCh37
NC_000017.9:g.53939175_53939181del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682306.1:c.955_961del MANE Select	ENSP00000507664.1:p.Lys319Ter
ENST00000323456.9:c.913_919del	ENSP00000325285.5:p.Lys305Ter
ENST00000579925.5:c.913_919del	ENSP00000464067.1:p.Lys305Ter
NM_004687.4:c.913_919del	NP_004678.3:p.Lys305Ter
XM_005257784.2:c.955_961del	XP_005257841.1:p.Lys319Ter
XM_005257785.3:c.925_931del	XP_005257842.1:p.Lys309Ter
XM_005257786.3:c.913_919del	XP_005257843.1:p.Lys305Ter
XM_006722168.2:c.913_919del	XP_006722231.1:p.Lys305Ter
XM_011525460.1:c.925_931del	XP_011523762.1:p.Lys309Ter
XM_005257785.5:c.925_931del	XP_005257842.1:p.Lys309Ter
XM_005257786.5:c.913_919del	XP_005257843.1:p.Lys305Ter
XM_006722168.4:c.913_919del	XP_006722231.1:p.Lys305Ter
XM_011525460.3:c.925_931del	XP_011523762.1:p.Lys309Ter
NM_004687.5:c.913_919del	NP_004678.3:p.Lys305Ter
NM_001378066.1:c.925_931del	NP_001364995.1:p.Lys309Ter
NM_001378067.1:c.955_961del MANE Select	NP_001364996.1:p.Lys319Ter