Canonical Allele Identifier: CA2695073616

Gene: AVPR2 L1CAM

Linked Data

• gnomAD v4: X-153906282-GAGCCCACGTGTCAGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906286_153906300del , CM000685.2:g.153906286_153906300del	GRCh38
NC_000023.10:g.153171740_153171754del , CM000685.1:g.153171740_153171754del	GRCh37
NC_000023.9:g.152824934_152824948del	NCBI36
NG_008687.1:g.6313_6327del
NG_009645.3:g.7927_7941del
NG_013220.1:g.24964_24978del

Transcript Alleles

HGVS	Amino-acid change
ENST00000646375.2:c.780_794del (AVPR2) MANE Select	ENSP00000496396.1:p.His261_Ala265del
ENST00000434679.6:c.*146_*160del (AVPR2)	ENSP00000393397.1:n.*146_*160del
ENST00000642393.1:c.97+2773_97+2787del
ENST00000646191.1:c.97+2773_97+2787del
ENST00000646375.1:c.780_794del (AVPR2)	ENSP00000496396.1:p.His261_Ala265del
ENST00000337474.5:c.780_794del (AVPR2)	ENSP00000338072.5:p.His261_Ala265del
ENST00000358927.6:c.780_794del (AVPR2)	ENSP00000351805.2:p.His261_Ala265del
ENST00000370049.1:c.780_794del (AVPR2)	ENSP00000359066.1:p.His261_Ala265del
ENST00000430697.1:c.780_794del (AVPR2)	ENSP00000393513.1:p.His261_Ala265del
ENST00000434679.5:c.*146_*160del (AVPR2)	ENSP00000393397.1:n.*146_*160del
ENST00000464967.5:n.154+2773_154+2787del (L1CAM)
NM_000054.4:c.780_794del (AVPR2)	NP_000045.1:p.His261_Ala265del
NM_001146151.1:c.780_794del (AVPR2)	NP_001139623.1:p.His261_Ala265del
NR_027419.1:n.827_841del (AVPR2)
XM_006724828.2:c.780_794del (AVPR2)	XP_006724891.1:p.His261_Ala265del
NM_000054.5:c.780_794del (AVPR2)	NP_000045.1:p.His261_Ala265del
NM_001146151.2:c.780_794del (AVPR2)	NP_001139623.1:p.His261_Ala265del
XM_006724828.3:c.780_794del (AVPR2)	XP_006724891.1:p.His261_Ala265del
NM_000054.6:c.780_794del (AVPR2)	NP_000045.1:p.His261_Ala265del
NM_001146151.3:c.780_794del (AVPR2)	NP_001139623.1:p.His261_Ala265del
NR_027419.2:n.733_747del (AVPR2)
NM_000054.7:c.780_794del (AVPR2) MANE Select	NP_000045.1:p.His261_Ala265del