Canonical Allele Identifier: CA2573332827
Gene: TRPS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.115414089_115416214del , CM000670.2:g.115414089_115416214del GRCh38
NC_000008.10:g.116426317_116428442del , CM000670.1:g.116426317_116428442del GRCh37
NC_000008.9:g.116495493_116497618del NCBI36
NG_012383.3:g.257790_259915del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395715.8:c.2824-1128_3821del
ENST00000640765.1:c.2785-1128_3782del
ENST00000220888.9:c.2785-1128_3782del
ENST00000395715.7:c.2824-1128_3821del
ENST00000519076.5:c.2047-1128_3044del
ENST00000520276.5:c.2797-1128_3794del
NM_001282902.2:c.2797-1128_3794del
NM_001282903.2:c.2803-1128_3800del
NM_014112.4:c.2824-1128_3821del
XM_005251049.2:c.2785-1128_3782del
XM_006716625.1:c.2824-1128_3821del
XM_011517264.1:c.2824-1128_3821del
XM_011517265.1:c.2824-1128_3821del
XM_011517266.1:c.2824-1128_3821del
XM_011517267.1:c.2803-1128_3800del
XM_011517268.1:c.2785-1128_3782del
NM_001330599.1:c.2785-1128_3782del
XM_011517264.2:c.2824-1128_3821del
XM_011517266.3:c.2824-1128_3821del
XM_011517268.2:c.2785-1128_3782del
NM_001282902.3:c.2797-1128_3794del
NM_001282903.3:c.2803-1128_3800del
NM_001330599.2:c.2785-1128_3782del
NM_014112.5:c.2824-1128_3821del