Canonical Allele Identifier: CA2695236969

Gene: AVPR2 L1CAM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906543_153906545dup , CM000685.2:g.153906543_153906545dup	GRCh38
NC_000023.10:g.153171997_153171999dup , CM000685.1:g.153171997_153171999dup	GRCh37
NC_000023.9:g.152825191_152825193dup	NCBI36
NG_008687.1:g.6570_6572dup
NG_009645.3:g.7679_7681dup
NG_013220.1:g.24716_24718dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.931_933dup (AVPR2) MANE Select	ENSP00000496396.1:p.Met311_Leu312insMet
ENST00000434679.6:c.*297_*299dup (AVPR2)	ENSP00000393397.1:n.*297_*299dup
ENST00000642393.1:c.97+2525_97+2527dup
ENST00000646191.1:c.97+2525_97+2527dup
ENST00000646375.1:c.931_933dup (AVPR2)	ENSP00000496396.1:p.Met311_Leu312insMet
ENST00000337474.5:c.931_933dup (AVPR2)	ENSP00000338072.5:p.Met311_Leu312insMet
ENST00000358927.6:c.931_933dup (AVPR2)	ENSP00000351805.2:p.Met311_Leu312insMet
ENST00000370049.1:c.*107_*109dup (AVPR2)	ENSP00000359066.1:n.*107_*109dup
ENST00000430697.1:c.843_845dup (AVPR2)	ENSP00000393513.1:p.Cys282Ter
ENST00000434679.5:c.*297_*299dup (AVPR2)	ENSP00000393397.1:n.*297_*299dup
ENST00000464967.5:n.154+2525_154+2527dup (L1CAM)
NM_000054.4:c.931_933dup (AVPR2)	NP_000045.1:p.Met311_Leu312insMet
NM_001146151.1:c.*107_*109dup (AVPR2)	NP_001139623.1:n.*107_*109dup
NR_027419.1:n.978_980dup (AVPR2)
XM_006724828.2:c.931_933dup (AVPR2)	XP_006724891.1:p.Met311_Leu312insMet
NM_000054.5:c.931_933dup (AVPR2)	NP_000045.1:p.Met311_Leu312insMet
NM_001146151.2:c.*107_*109dup (AVPR2)	NP_001139623.1:n.*107_*109dup
XM_006724828.3:c.931_933dup (AVPR2)	XP_006724891.1:p.Met311_Leu312insMet
NM_000054.6:c.931_933dup (AVPR2)	NP_000045.1:p.Met311_Leu312insMet
NM_001146151.3:c.*107_*109dup (AVPR2)	NP_001139623.1:n.*107_*109dup
NR_027419.2:n.884_886dup (AVPR2)
NM_000054.7:c.931_933dup (AVPR2) MANE Select	NP_000045.1:p.Met311_Leu312insMet