Canonical Allele Identifier: CA4127493

Gene: BRAT1

Linked Data

• dbSNP Id: rs1562565390
• ExAC: 7:2578194 GGGCCAGCTCCAGGCCCTGGGCGCGGACCTCCCAGTCCAGGTCTCGGCTCGCCGCCTGCAGCACAGTGGCCACGAACTGCTCCGTGTCCTGGGCCGCGTCGGCGTGGCCGTCCCGCA / G
• gnomAD v2: 7-2578194-GGGCCAGCTCCAGGCCCTGGGCGCGGACCTCCCAGTCCAGGTCTCGGCTCGCCGCCTGCAGCACAGTGGCCACGAACTGCTCCGTGTCCTGGGCCGCGTCGGCGTGGCCGTCCCGCA-G
• gnomAD v3: 7-2538560-GGGCCAGCTCCAGGCCCTGGGCGCGGACCTCCCAGTCCAGGTCTCGGCTCGCCGCCTGCAGCACAGTGGCCACGAACTGCTCCGTGTCCTGGGCCGCGTCGGCGTGGCCGTCCCGCA-G
• gnomAD v4: 7-2538560-GGGCCAGCTCCAGGCCCTGGGCGCGGACCTCCCAGTCCAGGTCTCGGCTCGCCGCCTGCAGCACAGTGGCCACGAACTGCTCCGTGTCCTGGGCCGCGTCGGCGTGGCCGTCCCGCA-G
• MyVariant Identifiers: chr7:g.2578195_2578310del (hg19) ; chr7:g.2538561_2538676del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2538562_2538677del , CM000669.2:g.2538562_2538677del	GRCh38
NC_000007.13:g.2578196_2578311del , CM000669.1:g.2578196_2578311del	GRCh37
NC_000007.12:g.2544722_2544837del	NCBI36
NG_032167.1:g.22083_22198del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340611.9:c.1859_1974del MANE Select	ENSP00000339637.4:p.Leu620ProfsTer?
ENST00000340611.8:c.1859_1974del	ENSP00000339637.4:p.Leu620ProfsTer?
ENST00000467558.5:n.3645_3760del
ENST00000469750.5:n.4431_4546del
ENST00000473879.1:n.402_517del
ENST00000493232.5:n.4565_4680del
NM_152743.3:c.1859_1974del	NP_689956.2:p.Leu620ProfsTer?
XM_005249643.3:c.2039_2154del	XP_005249700.1:p.Leu680ProfsTer?
XM_011515177.1:c.2123_2238del	XP_011513479.1:p.Leu708ProfsTer?
XM_011515178.1:c.2123_2238del	XP_011513480.1:p.Leu708ProfsTer?
XM_011515179.1:c.2120_2235del	XP_011513481.1:p.Leu707ProfsTer?
XM_011515180.1:c.2093_2208del	XP_011513482.1:p.Leu698ProfsTer?
XM_011515181.1:c.1943_2058del	XP_011513483.1:p.Leu648ProfsTer?
XM_011515182.1:c.2123_2238del	XP_011513484.1:p.Leu708ProfsTer?
XM_011515183.1:c.1598_1713del	XP_011513485.1:p.Leu533ProfsTer?
XM_011515184.1:c.1598_1713del	XP_011513486.1:p.Leu533ProfsTer?
XM_011515185.1:c.1859_1974del	XP_011513487.1:p.Leu620ProfsTer?
XM_011515187.1:c.695_810del	XP_011513489.1:p.Leu232ProfsTer?
NM_001350626.1:c.2039_2154del	NP_001337555.1:p.Leu680ProfsTer?
NM_001350627.1:c.1334_1449del	NP_001337556.1:p.Leu445ProfsTer?
NR_146879.1:n.2276_2391del
XM_011515177.2:c.2123_2238del	XP_011513479.1:p.Leu708ProfsTer?
XM_011515179.2:c.2120_2235del	XP_011513481.1:p.Leu707ProfsTer?
XM_011515181.2:c.1943_2058del	XP_011513483.1:p.Leu648ProfsTer?
XM_011515182.2:c.2123_2238del	XP_011513484.1:p.Leu708ProfsTer?
XM_011515184.3:c.1598_1713del	XP_011513486.1:p.Leu533ProfsTer?
XM_011515186.2:c.*6_*121del	XP_011513488.1:n.*6_*121del
XM_017011833.1:c.2036_2151del	XP_016867322.1:p.Leu679ProfsTer?
XM_017011834.1:c.1856_1971del	XP_016867323.1:p.Leu619ProfsTer?
XM_017011836.2:c.*6_*121del	XP_016867325.1:n.*6_*121del
XM_024446682.1:c.695_810del	XP_024302450.1:p.Leu232ProfsTer?
NM_152743.4:c.1859_1974del MANE Select	NP_689956.2:p.Leu620ProfsTer?
NM_001350626.2:c.2039_2154del	NP_001337555.1:p.Leu680ProfsTer?
NM_001350627.2:c.1334_1449del	NP_001337556.1:p.Leu445ProfsTer?
NR_146879.2:n.2042_2157del