Canonical Allele Identifier: CA10555150

Gene: AVPR2 L1CAM

Linked Data

• dbSNP Id: rs372591258
• ExAC: X:153172232 TTCCTGGGGCTGG / T
• gnomAD v2: X-153172232-TTCCTGGGGCTGG-T
• gnomAD v3: X-153906778-TTCCTGGGGCTGG-T
• gnomAD v4: X-153906778-TTCCTGGGGCTGG-T
• MyVariant Identifiers: chrX:g.153172233_153172244del (hg19) ; chrX:g.153906780_153906791del (hg38) ; chrX:g.153906779_153906790del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153906786_153906797del , CM000685.2:g.153906786_153906797del	GRCh38
NC_000023.10:g.153172240_153172251del , CM000685.1:g.153172240_153172251del	GRCh37
NC_000023.9:g.152825434_152825445del	NCBI36
NG_008687.1:g.6813_6824del
NG_009645.3:g.7434_7445del
NG_013220.1:g.24471_24482del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646375.2:c.*58_*69del (AVPR2) MANE Select	ENSP00000496396.1:n.*58_*69del
ENST00000434679.6:c.*540_*551del (AVPR2)	ENSP00000393397.1:n.*540_*551del
ENST00000642393.1:c.97+2280_97+2291del
ENST00000646191.1:c.97+2280_97+2291del
ENST00000646375.1:c.*58_*69del (AVPR2)	ENSP00000496396.1:n.*58_*69del
ENST00000337474.5:c.*58_*69del (AVPR2)	ENSP00000338072.5:n.*58_*69del
ENST00000358927.6:c.*58_*69del (AVPR2)	ENSP00000351805.2:n.*58_*69del
ENST00000430697.1:c.1086_1097del (AVPR2)	ENSP00000393513.1:p.Leu363_Gly366del
ENST00000434679.5:c.*540_*551del (AVPR2)	ENSP00000393397.1:n.*540_*551del
ENST00000464967.5:n.154+2280_154+2291del (L1CAM)
NM_000054.4:c.*58_*69del (AVPR2)	NP_000045.1:n.*58_*69del
NM_001146151.1:c.*350_*361del (AVPR2)	NP_001139623.1:n.*350_*361del
NR_027419.1:n.1221_1232del (AVPR2)
XM_006724828.2:c.*58_*69del (AVPR2)	XP_006724891.1:n.*58_*69del
NM_000054.5:c.*58_*69del (AVPR2)	NP_000045.1:n.*58_*69del
NM_001146151.2:c.*350_*361del (AVPR2)	NP_001139623.1:n.*350_*361del
XM_006724828.3:c.*58_*69del (AVPR2)	XP_006724891.1:n.*58_*69del
NM_000054.6:c.*58_*69del (AVPR2)	NP_000045.1:n.*58_*69del
NM_001146151.3:c.*350_*361del (AVPR2)	NP_001139623.1:n.*350_*361del
NR_027419.2:n.1127_1138del (AVPR2)
NM_000054.7:c.*58_*69del (AVPR2) MANE Select	NP_000045.1:n.*58_*69del