Canonical Allele Identifier: CA2695230214
Gene: CBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43058149_43058257del , CM000683.2:g.43058149_43058257del GRCh38
NG_008938.1:g.22679_22787del , LRG_777:g.22679_22787del

Transcript Alleles

HGVS Amino-acid change
ENST00000398165.8:c.1360_1467+1del
ENST00000352178.9:c.1360_1467+1del
ENST00000359624.7:c.1360_1467+1del
ENST00000398158.5:c.1360_1467+1del
ENST00000398165.7:c.1360_1467+1del
ENST00000430013.1:c.321_428+1del
ENST00000451248.5:c.110_217+1del
ENST00000458223.5:c.123_230+1del
ENST00000461686.5:n.1671_1778+1del
ENST00000462349.5:n.651_758+1del
ENST00000491776.1:n.295_402+1del
NM_000071.2:c.1360_1467+1del , LRG_777t1:c.1360_1467+1del
NM_001178008.1:c.1360_1467+1del
NM_001178009.1:c.1360_1467+1del
XM_011529773.1:c.1411_1518+1del
XM_011529774.1:c.1411_1518+1del
XM_011529775.1:c.1411_1518+1del
XM_011529776.1:c.1411_1518+1del
XM_011529777.1:c.1360_1467+1del
XM_011529778.1:c.1360_1467+1del
XM_011529779.1:c.1360_1467+1del
XM_011529781.1:c.1360_1467+1del
XM_011529782.1:c.1360_1467+1del
XM_011529783.1:c.1045_1152+1del
XM_011529784.1:c.1045_1152+1del
NM_001178008.2:c.1360_1467+1del
NM_001178009.2:c.1360_1467+1del
NM_001320298.1:c.1360_1467+1del
NM_001321072.1:c.1045_1152+1del
XM_011529774.2:c.1411_1518+1del
XM_011529777.2:c.1360_1467+1del
XM_011529783.2:c.1045_1152+1del
XM_017028491.2:c.1360_1467+1del
XM_024452136.1:c.1411_1518+1del
XM_024452137.1:c.1411_1518+1del
XM_024452138.1:c.1045_1152+1del
XM_024452139.1:c.1045_1152+1del
XM_024452140.1:c.1045_1152+1del
XR_001754915.1:n.1846+39_1846+147del
XR_001754916.2:n.1664_1771+1del
XR_001754917.2:n.1664_1771+1del
XR_002958634.1:n.2446+39_2446+147del
NM_000071.3:c.1360_1467+1del
NM_001178009.3:c.1360_1467+1del
NM_001178008.3:c.1360_1467+1del
NM_001320298.2:c.1360_1467+1del