Canonical Allele Identifier: CA307135861

Gene: CCNE1

Linked Data

• dbSNP Id: rs781318483
• gnomAD v2: 19-30304451-ATTC-A
• gnomAD v3: 19-29813544-ATTC-A
• gnomAD v4: 19-29813544-ATTC-A
• MyVariant Identifiers: chr19:g.30304452_30304454del (hg19) ; chr19:g.29813545_29813547del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.29813549_29813551del , CM000681.2:g.29813549_29813551del	GRCh38
NC_000019.9:g.30304456_30304458del , CM000681.1:g.30304456_30304458del	GRCh37
NC_000019.8:g.34996296_34996298del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000262643.8:c.180+512_180+514del MANE Select	ENSP00000262643.3:n.180+512_180+514del
ENST00000262643.7:c.180+512_180+514del	ENSP00000262643.3:n.180+512_180+514del
ENST00000357943.9:c.135+512_135+514del	ENSP00000350625.6:n.135+512_135+514del
ENST00000444983.6:c.135+512_135+514del	ENSP00000410179.2:n.135+512_135+514del
ENST00000575243.5:c.171+512_171+514del	ENSP00000459024.1:n.171+512_171+514del
NM_001238.2:c.180+512_180+514del	NP_001229.1:n.180+512_180+514del
XM_005259370.2:c.180+512_180+514del	XP_005259427.1:n.180+512_180+514del
XM_006723457.2:c.135+512_135+514del	XP_006723520.1:n.135+512_135+514del
XM_011527440.1:c.171+512_171+514del	XP_011525742.1:n.171+512_171+514del
NM_001238.3:c.180+512_180+514del	NP_001229.1:n.180+512_180+514del
NM_001322259.1:c.180+512_180+514del	NP_001309188.1:n.180+512_180+514del
NM_001322261.1:c.180+512_180+514del	NP_001309190.1:n.180+512_180+514del
NM_001322262.1:c.135+512_135+514del	NP_001309191.1:n.135+512_135+514del
XM_011527440.2:c.171+512_171+514del	XP_011525742.1:n.171+512_171+514del
NM_001238.4:c.180+512_180+514del MANE Select	NP_001229.1:n.180+512_180+514del
NM_001322259.2:c.180+512_180+514del	NP_001309188.1:n.180+512_180+514del
NM_001322261.2:c.180+512_180+514del	NP_001309190.1:n.180+512_180+514del
NM_001322262.2:c.135+512_135+514del	NP_001309191.1:n.135+512_135+514del