Canonical Allele Identifier: CA576413719

Gene: CYP3A5 ZSCAN25

Linked Data

• dbSNP Id: rs1234678621
• gnomAD v2: 7-99262870-TGA-T
• gnomAD v3: 7-99665247-TGA-T
• gnomAD v4: 7-99665247-TGA-T
• MyVariant Identifiers: chr7:g.99262871_99262872del (hg19) ; chr7:g.99665248_99665249del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99665253_99665254del , CM000669.2:g.99665253_99665254del	GRCh38
NC_000007.13:g.99262876_99262877del , CM000669.1:g.99262876_99262877del	GRCh37
NC_000007.12:g.99100812_99100813del	NCBI36
NG_007938.1:g.19750_19751del
NG_007938.2:g.19750_19751del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646887.1:c.*272_*273del (CYP3A5)	ENSP00000496704.1:n.*272_*273del
ENST00000222982.8:c.587_588del (CYP3A5) MANE Select	ENSP00000222982.4:p.Leu196GlnfsTer12
ENST00000339843.6:c.*986_*987del (CYP3A5)	ENSP00000343074.2:n.*986_*987del
ENST00000461920.5:n.1179_1180del (CYP3A5)
ENST00000463364.5:n.906_907del (CYP3A5)
ENST00000466061.5:n.927_928del (CYP3A5)
ENST00000469887.5:n.1035_1036del (CYP3A5)
ENST00000481825.5:n.1187_1188del (CYP3A5)
NM_000777.4:c.587_588del (CYP3A5)	NP_000768.1:p.Leu196GlnfsTer12
NM_001291829.1:c.248_249del (CYP3A5)	NP_001278758.1:p.Leu83GlnfsTer12
NM_001291830.1:c.557_558del (CYP3A5)	NP_001278759.1:p.Leu186GlnfsTer12
NR_033807.2:n.1236_1237del (CYP3A5)
XM_006715859.2:c.587_588del (CYP3A5)	XP_006715922.1:p.Leu196GlnfsTer12
XM_011515843.1:c.248_249del (CYP3A5)	XP_011514145.1:p.Leu83GlnfsTer12
XM_011515844.1:c.248_249del (CYP3A5)	XP_011514146.1:p.Leu83GlnfsTer12
XM_011515845.1:c.47_48del (CYP3A5)	XP_011514147.1:p.Leu16GlnfsTer12
XM_011515846.1:c.47_48del (CYP3A5)	XP_011514148.1:p.Leu16GlnfsTer12
XM_011515847.1:c.47_48del (CYP3A5)	XP_011514149.1:p.Leu16GlnfsTer12
XM_011515909.1:c.806-3842_806-3841del (ZSCAN25)	XP_011514211.1:n.806-3842_806-3841del
XR_927402.1:n.1466+41073_1466+41074del (ZSCAN25)
NM_000777.5:c.587_588del (CYP3A5) MANE Select	NP_000768.1:p.Leu196GlnfsTer12
NM_001350984.1:c.806-3842_806-3841del (ZSCAN25)	NP_001337913.1:n.806-3842_806-3841del
NM_001350985.1:c.806-3842_806-3841del (ZSCAN25)	NP_001337914.1:n.806-3842_806-3841del
XM_011515909.2:c.806-3842_806-3841del (ZSCAN25)	XP_011514211.1:n.806-3842_806-3841del
XR_927402.2:n.1465+41073_1465+41074del (ZSCAN25)
NM_001291829.2:c.248_249del (CYP3A5)	NP_001278758.1:p.Leu83GlnfsTer12
NM_001291830.2:c.557_558del (CYP3A5)	NP_001278759.1:p.Leu186GlnfsTer12
NM_001350984.2:c.806-3842_806-3841del (ZSCAN25)	NP_001337913.1:n.806-3842_806-3841del
NM_001350985.2:c.806-3842_806-3841del (ZSCAN25)	NP_001337914.1:n.806-3842_806-3841del
NR_033807.3:n.1206_1207del (CYP3A5)