Canonical Allele Identifier: CA2695073577

Gene: AVPR2 L1CAM

Linked Data

• gnomAD v4: X-153905495-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153905500_153905501del , CM000685.2:g.153905500_153905501del	GRCh38
NC_000023.10:g.153170954_153170955del , CM000685.1:g.153170954_153170955del	GRCh37
NC_000023.9:g.152824148_152824149del	NCBI36
NG_008687.1:g.5527_5528del
NG_009645.3:g.8727_8728del
NG_013220.1:g.25764_25765del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.26-32_26-31del (AVPR2) MANE Select	ENSP00000496396.1:n.26-32_26-31del
ENST00000434679.6:c.25+330_25+331del (AVPR2)	ENSP00000393397.1:n.25+330_25+331del
ENST00000642393.1:c.97+3573_97+3574del
ENST00000646191.1:c.97+3573_97+3574del
ENST00000646375.1:c.26-32_26-31del (AVPR2)	ENSP00000496396.1:n.26-32_26-31del
ENST00000337474.5:c.26-32_26-31del (AVPR2)	ENSP00000338072.5:n.26-32_26-31del
ENST00000358927.6:c.26-32_26-31del (AVPR2)	ENSP00000351805.2:n.26-32_26-31del
ENST00000370049.1:c.26-32_26-31del (AVPR2)	ENSP00000359066.1:n.26-32_26-31del
ENST00000430697.1:c.26-32_26-31del (AVPR2)	ENSP00000393513.1:n.26-32_26-31del
ENST00000434679.5:c.25+330_25+331del (AVPR2)	ENSP00000393397.1:n.25+330_25+331del
ENST00000464967.5:n.154+3573_154+3574del (L1CAM)
NM_000054.4:c.26-32_26-31del (AVPR2)	NP_000045.1:n.26-32_26-31del
NM_001146151.1:c.26-32_26-31del (AVPR2)	NP_001139623.1:n.26-32_26-31del
NR_027419.1:n.559+330_559+331del (AVPR2)
XM_006724828.2:c.26-32_26-31del (AVPR2)	XP_006724891.1:n.26-32_26-31del
NM_000054.5:c.26-32_26-31del (AVPR2)	NP_000045.1:n.26-32_26-31del
NM_001146151.2:c.26-32_26-31del (AVPR2)	NP_001139623.1:n.26-32_26-31del
XM_006724828.3:c.26-32_26-31del (AVPR2)	XP_006724891.1:n.26-32_26-31del
NM_000054.6:c.26-32_26-31del (AVPR2)	NP_000045.1:n.26-32_26-31del
NM_001146151.3:c.26-32_26-31del (AVPR2)	NP_001139623.1:n.26-32_26-31del
NR_027419.2:n.465+330_465+331del (AVPR2)
NM_000054.7:c.26-32_26-31del (AVPR2) MANE Select	NP_000045.1:n.26-32_26-31del