Canonical Allele Identifier: CA10622679
Community Standard Title: NM_007214.5(SEC63):c.340-8_340-7del
Gene: SEC63 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.107921919_107921920del , CM000668.2:g.107921919_107921920del GRCh38
NC_000006.11:g.108243123_108243124del , CM000668.1:g.108243123_108243124del GRCh37
NC_000006.10:g.108349816_108349817del NCBI36
NG_008270.1:g.41362_41363del

Transcript Alleles

HGVS Amino-acid Change
NM_007214.5:c.340-8_340-7del MANE Select NP_009145.1:n.340-8_340-7del
ENST00000369002.9:c.340-8_340-7del MANE Select ENSP00000357998.4:n.340-8_340-7del
NM_007214.4:c.340-8_340-7del NP_009145.1:n.340-8_340-7del
ENST00000369002.8:c.340-8_340-7del ENSP00000357998.4:n.340-8_340-7del
ENST00000429168.1:c.172-8_172-7del ENSP00000403144.1:n.172-8_172-7del
ENST00000484803.5:n.262-8_262-7del
XM_011535399.1:c.172-8_172-7del XP_011533701.1:n.172-8_172-7del
XM_017010218.2:c.-755-8_-755-7del XP_016865707.1:n.-755-8_-755-7del