Canonical Allele Identifier: CA2695073551

Gene: AVPR2 L1CAM

Linked Data

• gnomAD v4: X-153905468-GCAGGCCTGAGTCCCCCTGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153905472_153905491del , CM000685.2:g.153905472_153905491del	GRCh38
NC_000023.10:g.153170926_153170945del , CM000685.1:g.153170926_153170945del	GRCh37
NC_000023.9:g.152824120_152824139del	NCBI36
NG_008687.1:g.5499_5518del
NG_009645.3:g.8736_8755del
NG_013220.1:g.25773_25792del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.26-60_26-41del (AVPR2) MANE Select	ENSP00000496396.1:n.26-60_26-41del
ENST00000434679.6:c.25+302_25+321del (AVPR2)	ENSP00000393397.1:n.25+302_25+321del
ENST00000642393.1:c.97+3582_97+3601del
ENST00000646191.1:c.97+3582_97+3601del
ENST00000646375.1:c.26-60_26-41del (AVPR2)	ENSP00000496396.1:n.26-60_26-41del
ENST00000337474.5:c.26-60_26-41del (AVPR2)	ENSP00000338072.5:n.26-60_26-41del
ENST00000358927.6:c.26-60_26-41del (AVPR2)	ENSP00000351805.2:n.26-60_26-41del
ENST00000370049.1:c.26-60_26-41del (AVPR2)	ENSP00000359066.1:n.26-60_26-41del
ENST00000430697.1:c.26-60_26-41del (AVPR2)	ENSP00000393513.1:n.26-60_26-41del
ENST00000434679.5:c.25+302_25+321del (AVPR2)	ENSP00000393397.1:n.25+302_25+321del
ENST00000464967.5:n.154+3582_154+3601del (L1CAM)
NM_000054.4:c.26-60_26-41del (AVPR2)	NP_000045.1:n.26-60_26-41del
NM_001146151.1:c.26-60_26-41del (AVPR2)	NP_001139623.1:n.26-60_26-41del
NR_027419.1:n.559+302_559+321del (AVPR2)
XM_006724828.2:c.26-60_26-41del (AVPR2)	XP_006724891.1:n.26-60_26-41del
NM_000054.5:c.26-60_26-41del (AVPR2)	NP_000045.1:n.26-60_26-41del
NM_001146151.2:c.26-60_26-41del (AVPR2)	NP_001139623.1:n.26-60_26-41del
XM_006724828.3:c.26-60_26-41del (AVPR2)	XP_006724891.1:n.26-60_26-41del
NM_000054.6:c.26-60_26-41del (AVPR2)	NP_000045.1:n.26-60_26-41del
NM_001146151.3:c.26-60_26-41del (AVPR2)	NP_001139623.1:n.26-60_26-41del
NR_027419.2:n.465+302_465+321del (AVPR2)
NM_000054.7:c.26-60_26-41del (AVPR2) MANE Select	NP_000045.1:n.26-60_26-41del