Canonical Allele Identifier: CA1473951

Gene: MTR

Linked Data

• dbSNP Id: rs148885211
• ExAC: 1:236992439 ATATAT / A
• gnomAD v2: 1-236992439-ATATAT-A
• gnomAD v3: 1-236829139-ATATAT-A
• gnomAD v4: 1-236829139-ATATAT-A
• MyVariant Identifiers: chr1:g.236992440_236992444del (hg19) ; chr1:g.236829141_236829145del (hg38) ; chr1:g.236829140_236829144del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236829141_236829145del , CM000663.2:g.236829141_236829145del	GRCh38
NC_000001.10:g.236992441_236992445del , CM000663.1:g.236992441_236992445del	GRCh37
NC_000001.9:g.235059064_235059068del	NCBI36
NG_008959.1:g.38861_38865del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.996-48_996-44del MANE Select	ENSP00000355536.5:n.996-48_996-44del
ENST00000535889.6:c.996-48_996-44del	ENSP00000441845.1:n.996-48_996-44del
ENST00000650888.1:c.*38-48_*38-44del	ENSP00000498393.1:n.*38-48_*38-44del
ENST00000651455.1:c.996-48_996-44del	ENSP00000498963.1:n.996-48_996-44del
ENST00000674797.2:c.648-48_648-44del	ENSP00000502299.2:n.648-48_648-44del
ENST00000679569.1:n.1310-48_1310-44del
ENST00000679842.1:c.996-48_996-44del	ENSP00000506109.1:n.996-48_996-44del
ENST00000680454.1:n.1440-48_1440-44del
ENST00000681102.1:c.996-48_996-44del	ENSP00000505600.1:n.996-48_996-44del
ENST00000681177.1:c.996-48_996-44del	ENSP00000506327.1:n.996-48_996-44del
ENST00000681937.1:n.1628-48_1628-44del
ENST00000366577.9:c.996-48_996-44del	ENSP00000355536.5:n.996-48_996-44del
ENST00000463959.1:n.1015-48_1015-44del
ENST00000535889.5:c.996-48_996-44del	ENSP00000441845.1:n.996-48_996-44del
NM_000254.2:c.996-48_996-44del	NP_000245.2:n.996-48_996-44del
NM_001291939.1:c.996-48_996-44del	NP_001278868.1:n.996-48_996-44del
NM_001291940.1:c.-113-48_-113-44del	NP_001278869.1:n.-113-48_-113-44del
XM_005273141.3:c.993-48_993-44del	XP_005273198.1:n.993-48_993-44del
XM_006711769.2:c.996-48_996-44del	XP_006711832.1:n.996-48_996-44del
XM_006711770.1:c.60-48_60-44del	XP_006711833.1:n.60-48_60-44del
XM_011544193.1:c.996-48_996-44del	XP_011542495.1:n.996-48_996-44del
XM_011544194.1:c.1164-48_1164-44del	XP_011542496.1:n.1164-48_1164-44del
XM_005273141.5:c.993-48_993-44del	XP_005273198.1:n.993-48_993-44del
XM_006711770.3:c.60-48_60-44del	XP_006711833.1:n.60-48_60-44del
XM_011544194.3:c.1164-48_1164-44del	XP_011542496.1:n.1164-48_1164-44del
XM_017001329.2:c.1164-48_1164-44del	XP_016856818.1:n.1164-48_1164-44del
XM_017001330.2:c.1164-48_1164-44del	XP_016856819.1:n.1164-48_1164-44del
NM_001291940.2:c.-113-48_-113-44del	NP_001278869.1:n.-113-48_-113-44del
NM_000254.3:c.996-48_996-44del MANE Select	NP_000245.2:n.996-48_996-44del