Canonical Allele Identifier: CA546941783

Gene: CP

Linked Data

• dbSNP Id: rs1289430519
• gnomAD v2: 3-148903942-TAC-T
• gnomAD v3: 3-149186155-TAC-T
• gnomAD v4: 3-149186155-TAC-T
• MyVariant Identifiers: chr3:g.148903943_148903944del (hg19) ; chr3:g.149186156_149186157del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149186157_149186158del , CM000665.2:g.149186157_149186158del	GRCh38
NC_000003.11:g.148903944_148903945del , CM000665.1:g.148903944_148903945del	GRCh37
NC_000003.10:g.150386634_150386635del	NCBI36
NG_011800.1:g.40889_40890del
NG_011800.2:g.40889_40890del
NG_011800.3:g.40889_40890del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264613.11:c.2077+363_2077+364del MANE Select	ENSP00000264613.6:n.2077+363_2077+364del
ENST00000264613.10:c.2077+363_2077+364del	ENSP00000264613.6:n.2077+363_2077+364del
ENST00000462336.5:n.451+363_451+364del
ENST00000481169.5:c.1865-711_1865-710del	ENSP00000418773.1:n.1865-711_1865-710del
ENST00000489736.5:n.1665_1666del
ENST00000490639.5:n.2109+363_2109+364del
ENST00000494544.1:c.1426+363_1426+364del	ENSP00000420545.1:n.1426+363_1426+364del
ENST00000497902.5:n.258+363_258+364del
NM_000096.3:c.2077+363_2077+364del	NP_000087.1:n.2077+363_2077+364del
NR_046371.1:n.2118-711_2118-710del
XM_006713499.2:c.2077+363_2077+364del	XP_006713562.1:n.2077+363_2077+364del
XM_006713500.2:c.2077+363_2077+364del	XP_006713563.1:n.2077+363_2077+364del
XM_006713501.2:c.2077+363_2077+364del	XP_006713564.1:n.2077+363_2077+364del
XM_006713502.2:c.2077+363_2077+364del	XP_006713565.1:n.2077+363_2077+364del
XM_011512435.1:c.2077+363_2077+364del	XP_011510737.1:n.2077+363_2077+364del
XR_427361.2:n.2335+363_2335+364del
XM_006713499.3:c.2077+363_2077+364del	XP_006713562.1:n.2077+363_2077+364del
XM_006713500.4:c.2077+363_2077+364del	XP_006713563.1:n.2077+363_2077+364del
XM_006713501.3:c.2077+363_2077+364del	XP_006713564.1:n.2077+363_2077+364del
XM_011512435.2:c.2077+363_2077+364del	XP_011510737.1:n.2077+363_2077+364del
XM_017005734.2:c.2077+363_2077+364del	XP_016861223.1:n.2077+363_2077+364del
XM_017005735.2:c.2077+363_2077+364del	XP_016861224.1:n.2077+363_2077+364del
XR_427361.3:n.2293+363_2293+364del
NM_000096.4:c.2077+363_2077+364del MANE Select	NP_000087.2:n.2077+363_2077+364del
NR_046371.2:n.1902-711_1902-710del