Canonical Allele Identifier: CA2631462309

Gene: PAM16 CORO7-PAM16

Linked Data

• gnomAD v4: 16-4340983-G-GTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4340985_4340987dup , CM000678.2:g.4340985_4340987dup	GRCh38
NC_000016.9:g.4390986_4390988dup , CM000678.1:g.4390986_4390988dup	GRCh37
NC_000016.8:g.4330987_4330989dup	NCBI36
NG_016391.1:g.13762_13764dup
NG_016391.2:g.31225_31227dup
NG_054893.1:g.15387_15389dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318059.8:c.226-1_227dup (PAM16)
ENST00000318059.7:c.226-1_227dup (PAM16)
ENST00000571178.1:c.200-1_201dup (PAM16)
ENST00000571941.5:c.286-1_287dup (PAM16)
ENST00000571986.5:c.*119-1_*120dup (PAM16)
ENST00000572274.1:n.628-1_629dup (CORO7-PAM16)
ENST00000572467.5:c.2995-1_2996dup (CORO7-PAM16)
ENST00000573236.5:n.482-1_483dup (PAM16)
ENST00000573450.5:n.359-1_360dup (PAM16)
ENST00000573553.5:c.286-1_287dup (PAM16)
ENST00000573614.5:n.430-1_431dup (PAM16)
ENST00000575334.5:c.*1521-1_*1522dup (CORO7-PAM16)
ENST00000575636.5:c.*119-1_*120dup (PAM16)
ENST00000575848.5:c.262-1_263dup (PAM16)
ENST00000576217.1:c.226-1_227dup (PAM16)
ENST00000577031.5:c.226-1_227dup (PAM16)
NM_001201479.1:c.2995-1_2996dup (CORO7-PAM16)
NM_016069.9:c.226-1_227dup (PAM16)
NM_016069.10:c.226-1_227dup (PAM16)
NM_016069.11:c.226-1_227dup (PAM16)
NM_001201479.2:c.2995-1_2996dup (CORO7-PAM16)