Canonical Allele Identifier: CA2695236913

Gene: AVPR2 L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153905729_153905731delinsAA , CM000685.2:g.153905729_153905731delinsAA	GRCh38
NC_000023.10:g.153171183_153171185delinsAA , CM000685.1:g.153171183_153171185delinsAA	GRCh37
NC_000023.9:g.152824377_152824379delinsAA	NCBI36
NG_008687.1:g.5756_5758delinsAA
NG_009645.3:g.8493_8495delinsTT
NG_013220.1:g.25530_25532delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.223_225delinsAA (AVPR2) MANE Select	ENSP00000496396.1:p.His75LysfsTer?
ENST00000434679.6:c.26-290_26-288delinsAA (AVPR2)	ENSP00000393397.1:n.26-290_26-288delinsAA
ENST00000642393.1:c.97+3339_97+3341delinsTT
ENST00000646191.1:c.97+3339_97+3341delinsTT
ENST00000646375.1:c.223_225delinsAA (AVPR2)	ENSP00000496396.1:p.His75LysfsTer?
ENST00000337474.5:c.223_225delinsAA (AVPR2)	ENSP00000338072.5:p.His75LysfsTer?
ENST00000358927.6:c.223_225delinsAA (AVPR2)	ENSP00000351805.2:p.His75LysfsTer?
ENST00000370049.1:c.223_225delinsAA (AVPR2)	ENSP00000359066.1:p.His75LysfsTer?
ENST00000430697.1:c.223_225delinsAA (AVPR2)	ENSP00000393513.1:p.His75LysfsTer?
ENST00000434679.5:c.26-290_26-288delinsAA (AVPR2)	ENSP00000393397.1:n.26-290_26-288delinsAA
ENST00000464967.5:n.154+3339_154+3341delinsTT (L1CAM)
NM_000054.4:c.223_225delinsAA (AVPR2)	NP_000045.1:p.His75LysfsTer?
NM_001146151.1:c.223_225delinsAA (AVPR2)	NP_001139623.1:p.His75LysfsTer?
NR_027419.1:n.560-290_560-288delinsAA (AVPR2)
XM_006724828.2:c.223_225delinsAA (AVPR2)	XP_006724891.1:p.His75LysfsTer?
NM_000054.5:c.223_225delinsAA (AVPR2)	NP_000045.1:p.His75LysfsTer?
NM_001146151.2:c.223_225delinsAA (AVPR2)	NP_001139623.1:p.His75LysfsTer?
XM_006724828.3:c.223_225delinsAA (AVPR2)	XP_006724891.1:p.His75LysfsTer?
NM_000054.6:c.223_225delinsAA (AVPR2)	NP_000045.1:p.His75LysfsTer?
NM_001146151.3:c.223_225delinsAA (AVPR2)	NP_001139623.1:p.His75LysfsTer?
NR_027419.2:n.466-290_466-288delinsAA (AVPR2)
NM_000054.7:c.223_225delinsAA (AVPR2) MANE Select	NP_000045.1:p.His75LysfsTer?