Canonical Allele Identifier: CA2532526440

Gene: AVPR2 L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906538_153906542del , CM000685.2:g.153906538_153906542del	GRCh38
NC_000023.10:g.153171992_153171996del , CM000685.1:g.153171992_153171996del	GRCh37
NC_000023.9:g.152825186_152825190del	NCBI36
NG_008687.1:g.6565_6569del
NG_009645.3:g.7683_7687del
NG_013220.1:g.24720_24724del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.926_930del (AVPR2) MANE Select	ENSP00000496396.1:p.Leu309HisfsTer?
ENST00000434679.6:c.*292_*296del (AVPR2)	ENSP00000393397.1:n.*292_*296del
ENST00000642393.1:c.97+2529_97+2533del
ENST00000646191.1:c.97+2529_97+2533del
ENST00000646375.1:c.926_930del (AVPR2)	ENSP00000496396.1:p.Leu309HisfsTer?
ENST00000337474.5:c.926_930del (AVPR2)	ENSP00000338072.5:p.Leu309HisfsTer?
ENST00000358927.6:c.926_930del (AVPR2)	ENSP00000351805.2:p.Leu309HisfsTer?
ENST00000370049.1:c.*102_*106del (AVPR2)	ENSP00000359066.1:n.*102_*106del
ENST00000430697.1:c.838_842del (AVPR2)	ENSP00000393513.1:p.Tyr280MetfsTer?
ENST00000434679.5:c.*292_*296del (AVPR2)	ENSP00000393397.1:n.*292_*296del
ENST00000464967.5:n.154+2529_154+2533del (L1CAM)
NM_000054.4:c.926_930del (AVPR2)	NP_000045.1:p.Leu309HisfsTer?
NM_001146151.1:c.*102_*106del (AVPR2)	NP_001139623.1:n.*102_*106del
NR_027419.1:n.973_977del (AVPR2)
XM_006724828.2:c.926_930del (AVPR2)	XP_006724891.1:p.Leu309HisfsTer?
NM_000054.5:c.926_930del (AVPR2)	NP_000045.1:p.Leu309HisfsTer?
NM_001146151.2:c.*102_*106del (AVPR2)	NP_001139623.1:n.*102_*106del
XM_006724828.3:c.926_930del (AVPR2)	XP_006724891.1:p.Leu309HisfsTer?
NM_000054.6:c.926_930del (AVPR2)	NP_000045.1:p.Leu309HisfsTer?
NM_001146151.3:c.*102_*106del (AVPR2)	NP_001139623.1:n.*102_*106del
NR_027419.2:n.879_883del (AVPR2)
NM_000054.7:c.926_930del (AVPR2) MANE Select	NP_000045.1:p.Leu309HisfsTer?