Canonical Allele Identifier: CA898291070
Community Standard Title: NM_001388419.1(KALRN):c.6345+119T>C
Gene: KALRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.124662047T>C , CM000665.2:g.124662047T>C GRCh38
NC_000003.11:g.124380894T>C , CM000665.1:g.124380894T>C GRCh37
NC_000003.10:g.125863584T>C NCBI36
NG_012742.1:g.572337T>C
NG_012742.2:g.572337T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001388419.1:c.6345+119T>C MANE Select NP_001375348.1:n.6345+119T>C
ENST00000682506.1:c.6345+119T>C MANE Select ENSP00000508359.1:n.6345+119T>C
NM_001024660.3:c.6342+119T>C NP_001019831.2:n.6342+119T>C
NM_001024660.4:c.6342+119T>C NP_001019831.2:n.6342+119T>C
NM_001024660.5:c.6342+119T>C NP_001019831.2:n.6342+119T>C
NM_001322988.1:c.6339+119T>C NP_001309917.1:n.6339+119T>C
NM_001322988.2:c.6339+119T>C NP_001309917.1:n.6339+119T>C
NM_001322993.1:c.1251+119T>C NP_001309922.1:n.1251+119T>C
NM_001322993.2:c.1251+119T>C NP_001309922.1:n.1251+119T>C
NM_001322994.1:c.1278+119T>C NP_001309923.1:n.1278+119T>C
NM_001322994.2:c.1278+119T>C NP_001309923.1:n.1278+119T>C
NM_001322995.1:c.1251+119T>C NP_001309924.1:n.1251+119T>C
NM_001322995.2:c.1251+119T>C NP_001309924.1:n.1251+119T>C
NM_001322996.1:c.1251+119T>C NP_001309925.1:n.1251+119T>C
NM_001322996.2:c.1251+119T>C NP_001309925.1:n.1251+119T>C
NM_001322997.1:c.1248+119T>C NP_001309926.1:n.1248+119T>C
NM_001322997.2:c.1248+119T>C NP_001309926.1:n.1248+119T>C
NM_001322998.1:c.1155+119T>C NP_001309927.1:n.1155+119T>C
NM_001322998.2:c.1155+119T>C NP_001309927.1:n.1155+119T>C
NM_001322999.1:c.1152+119T>C NP_001309928.1:n.1152+119T>C
NM_001322999.2:c.1152+119T>C NP_001309928.1:n.1152+119T>C
NM_001323000.1:c.1155+119T>C NP_001309929.1:n.1155+119T>C
NM_001323000.2:c.1155+119T>C NP_001309929.1:n.1155+119T>C
NM_001323001.1:c.1152+119T>C NP_001309930.1:n.1152+119T>C
NM_001323001.2:c.1152+119T>C NP_001309930.1:n.1152+119T>C
NM_001388412.1:c.4419+119T>C NP_001375341.1:n.4419+119T>C
NM_007064.3:c.1251+119T>C NP_008995.2:n.1251+119T>C
NM_007064.4:c.1251+119T>C NP_008995.2:n.1251+119T>C
NM_007064.5:c.1251+119T>C NP_008995.2:n.1251+119T>C
ENST00000291478.9:c.1251+119T>C ENSP00000291478.4:n.1251+119T>C
ENST00000354186.8:c.6248+119T>C
ENST00000360013.7:c.6342+119T>C ENSP00000353109.3:n.6342+119T>C
ENST00000393496.5:n.1529+119T>C
ENST00000459915.2:n.888+119T>C
ENST00000682290.1:c.1358+119T>C
ENST00000682363.1:c.1278+119T>C ENSP00000507954.1:n.1278+119T>C
ENST00000683592.1:n.6299+119T>C
ENST00000684360.1:c.2427+119T>C ENSP00000506947.1:n.2427+119T>C
XM_006713810.2:c.6348+119T>C XP_006713873.1:n.6348+119T>C
XM_006713810.3:c.6348+119T>C XP_006713873.1:n.6348+119T>C
XM_006713811.2:c.6321+119T>C XP_006713874.1:n.6321+119T>C
XM_006713811.3:c.6321+119T>C XP_006713874.1:n.6321+119T>C
XM_006713812.2:c.6309+119T>C XP_006713875.1:n.6309+119T>C
XM_006713812.3:c.6309+119T>C XP_006713875.1:n.6309+119T>C
XM_006713813.2:c.6282+119T>C XP_006713876.1:n.6282+119T>C
XM_006713813.3:c.6282+119T>C XP_006713876.1:n.6282+119T>C
XM_006713814.2:c.6252+119T>C XP_006713877.1:n.6252+119T>C
XM_006713814.3:c.6252+119T>C XP_006713877.1:n.6252+119T>C
XM_011513279.1:c.6348+119T>C XP_011511581.1:n.6348+119T>C
XM_011513279.2:c.6348+119T>C XP_011511581.1:n.6348+119T>C
XM_011513280.1:c.6345+119T>C XP_011511582.1:n.6345+119T>C
XM_011513280.2:c.6345+119T>C XP_011511582.1:n.6345+119T>C
XM_011513281.1:c.6315+119T>C XP_011511583.1:n.6315+119T>C
XM_011513281.3:c.6315+119T>C XP_011511583.1:n.6315+119T>C
XM_011513282.1:c.6348+119T>C XP_011511584.1:n.6348+119T>C
XM_011513283.1:c.6348+119T>C XP_011511585.1:n.6348+119T>C
XM_011513283.2:c.6348+119T>C XP_011511585.1:n.6348+119T>C
XM_011513284.1:c.6348+119T>C XP_011511586.1:n.6348+119T>C
XM_011513285.1:c.6252+119T>C XP_011511587.1:n.6252+119T>C
XM_011513285.2:c.6252+119T>C XP_011511587.1:n.6252+119T>C
XM_017007429.1:c.6348+119T>C XP_016862918.1:n.6348+119T>C
XM_017007430.1:c.6249+119T>C XP_016862919.1:n.6249+119T>C
XM_017007431.1:c.6345+119T>C XP_016862920.1:n.6345+119T>C
XM_017007432.1:c.6249+119T>C XP_016862921.1:n.6249+119T>C
XM_024453811.1:c.6222+119T>C XP_024309579.1:n.6222+119T>C