Canonical Allele Identifier: CA1474183

Gene: MTR

Linked Data

• dbSNP Id: rs752129881
• ExAC: 1:237016207 GTA / G
• gnomAD v2: 1-237016207-GTA-G
• gnomAD v3: 1-236852907-GTA-G
• gnomAD v4: 1-236852907-GTA-G
• MyVariant Identifiers: chr1:g.237016208_237016209del (hg19) ; chr1:g.236852909_236852910del (hg38) ; chr1:g.236852908_236852909del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852909_236852910del , CM000663.2:g.236852909_236852910del	GRCh38
NC_000001.10:g.237016209_237016210del , CM000663.1:g.237016209_237016210del	GRCh37
NC_000001.9:g.235082832_235082833del	NCBI36
NG_008959.1:g.62629_62630del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1813-39_1813-38del MANE Select	ENSP00000355536.5:n.1813-39_1813-38del
ENST00000535889.6:c.1813-39_1813-38del	ENSP00000441845.1:n.1813-39_1813-38del
ENST00000650888.1:c.*855-39_*855-38del	ENSP00000498393.1:n.*855-39_*855-38del
ENST00000651455.1:c.*557-39_*557-38del	ENSP00000498963.1:n.*557-39_*557-38del
ENST00000674797.2:c.1465-39_1465-38del	ENSP00000502299.2:n.1465-39_1465-38del
ENST00000679569.1:n.2127-39_2127-38del
ENST00000679842.1:c.1813-39_1813-38del	ENSP00000506109.1:n.1813-39_1813-38del
ENST00000680454.1:n.2257-39_2257-38del
ENST00000681102.1:c.1633-39_1633-38del	ENSP00000505600.1:n.1633-39_1633-38del
ENST00000681177.1:c.1516-6924_1516-6923del	ENSP00000506327.1:n.1516-6924_1516-6923del
ENST00000681937.1:n.2148-6924_2148-6923del
ENST00000366576.3:c.475-39_475-38del	ENSP00000355535.3:n.475-39_475-38del
ENST00000366577.9:c.1813-39_1813-38del	ENSP00000355536.5:n.1813-39_1813-38del
ENST00000463959.1:n.1832-39_1832-38del
ENST00000535889.5:c.1813-39_1813-38del	ENSP00000441845.1:n.1813-39_1813-38del
NM_000254.2:c.1813-39_1813-38del	NP_000245.2:n.1813-39_1813-38del
NM_001291939.1:c.1813-39_1813-38del	NP_001278868.1:n.1813-39_1813-38del
NM_001291940.1:c.592-39_592-38del	NP_001278869.1:n.592-39_592-38del
XM_005273141.3:c.1810-39_1810-38del	XP_005273198.1:n.1810-39_1810-38del
XM_006711769.2:c.1813-39_1813-38del	XP_006711832.1:n.1813-39_1813-38del
XM_006711770.1:c.877-39_877-38del	XP_006711833.1:n.877-39_877-38del
XM_011544193.1:c.1813-39_1813-38del	XP_011542495.1:n.1813-39_1813-38del
XM_011544194.1:c.1981-39_1981-38del	XP_011542496.1:n.1981-39_1981-38del
XM_005273141.5:c.1810-39_1810-38del	XP_005273198.1:n.1810-39_1810-38del
XM_006711770.3:c.877-39_877-38del	XP_006711833.1:n.877-39_877-38del
XM_011544194.3:c.1981-39_1981-38del	XP_011542496.1:n.1981-39_1981-38del
XM_017001329.2:c.1981-39_1981-38del	XP_016856818.1:n.1981-39_1981-38del
XM_017001330.2:c.1981-39_1981-38del	XP_016856819.1:n.1981-39_1981-38del
NM_001291940.2:c.592-39_592-38del	NP_001278869.1:n.592-39_592-38del
NM_000254.3:c.1813-39_1813-38del MANE Select	NP_000245.2:n.1813-39_1813-38del